Malpuech facial clefting syndrome

Last updated
Malpuech facial clefting syndrome
Specialty Medical genetics   OOjs UI icon edit-ltr-progressive.svg

Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, [1] is a rare congenital syndrome. It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a caudal appendage (a "human tail"), [2] [3] growth deficiency, intellectual and developmental disability, and abnormalities of the renal system (kidneys) and the male genitalia. [4] Abnormalities of the heart, and other skeletal malformations may also be present. [5] The syndrome was initially described by Georges Malpuech and associates in 1983. [6] It is thought to be genetically related to Juberg-Hayward syndrome. Malpuech syndrome has also been considered as part of a spectrum of congenital genetic disorders associated with similar facial, urogenital and skeletal anomalies. Termed "3MC syndrome", this proposed spectrum includes Malpuech, Michels and Mingarelli-Carnevale (OSA) syndromes. [7] [8] Mutations in the COLLEC11 and MASP1 genes are believed to be a cause of these syndromes. [9] The incidence of Malpuech syndrome is unknown. The pattern of inheritance is autosomal recessive, which means a defective (mutated) gene associated with the syndrome is located on an autosome, and the syndrome occurs when two copies of this defective gene are inherited. [10]

Contents

Signs and symptoms

13900470 3PREOPERATION0.jpg
A typical cleft lip, seen in a five-month-old infant.
CleftLip3.png
The bilateral type of cleft lip has been reported in Malpuech syndrome.

Malpuech syndrome is congenital, being apparent at birth. It is characterized by a feature known as facial clefting. Observed and noted in the initial description of the syndrome as a cleft lip and palate, [6] facial clefting is identified by clefts in the bones, muscles and tissues of the face, including the lips and palate. The forms of cleft lip and palate typically seen with Malpuech syndrome are midline (down the middle of the lip and palate) [11] or bilateral (affecting both sides of the mouth and palate). [10] Facial clefting generally encompasses a wide range of severity, ranging from minor anomalies such as a bifid (split) uvula, to a cleft lip and palate, to major developmental and structural defects of the facial bones and soft tissues. [12] Clefting of the lip and palate occurs during embryogenesis. [13] [14] Additional facial and ortho-dental anomalies that have been described with the syndrome include: hypertelorism (unusually wide-set eyes, sometimes reported as telecanthus), narrow palpebral fissures (the separation between the upper and lower eyelids) and ptosis (drooping) of the eyelids, frontal bossing (prominent eyebrow ridge) with synophris, highly arched eyebrows, wide nasal root and a flattened nasal tip, malar hypoplasia (underdeveloped upper cheek bone), micrognathia (an undersized lower jaw), and prominent incisors. Auditory anomalies include an enlarged ear ridge, and hearing impairment associated with congenital otitis media (or "glue ear", inflammation of the middle ear) and sensorineural hearing loss. [4] [15] [16]

Another feature identified with Malpuech syndrome is a caudal appendage. [1] [3] A caudal appendage is a congenital outgrowth stemming from the coccyx (tailbone). Present in many non-human animal species as a typical tail, this feature when seen in an infant has been described as a "human tail". [2] [17] This was observed by Guion-Almeida (1995) in three individuals from Brazil. The appendage on X-rays variously appeared as a prominent protrusion of the coccyx. [3] On a physical examination, the appendage resembles a nodule-like stub of an animal tail. [18]

Deficiencies such as intellectual disability, learning disability, growth retardation and developmental delay are common. Psychiatric manifestations that have been reported with the syndrome include psychotic behavior, obsessive–compulsive disorder, loss of inhibition, hyperactivity, aggression, fear of physical contact, and compulsive actions like echolalia (repeating the words spoken by another person). Neuromuscular tics have also been noted. [4] [15]

Urogenital abnormalities, or those affecting the urinary and reproductive systems, are common with the syndrome. Malpuech et al. (1983) and Kerstjens-Frederikse et al. (2005) reported variously in affected males a micropenis, hypospadias (a congenital mislocation of the urinary meatus), cryptorchidism (ectopic or undescended testes), bifid (split) and underdeveloped scrotum, and an obstructive urethral valve. [4] [6] An affected boy was also reported by Reardon et al. (2001) with left renal agenesis, an enlarged and downwardly displaced right kidney, cryptorchidism and a shawl scrotum. [7] Other malformations that have been noted with the syndrome are omphalocele [3] and an umbilical hernia. [19]

Diagram of a neonatal heart affected by PDA Patent ductus arteriosus.svg
Diagram of a neonatal heart affected by PDA

Congenital abnormalities of the heart have also been observed with Malpuech syndrome. From a healthy Japanese couple, Chinen and Naritomi (1995) described the sixth child who had features consistent with the disorder. This two-month-old male infant was also affected by cardiac anomalies including patent ductus arteriosus (PDA) [20] and ventricular septal defect. [5] The opening in the ductus arteriosus associated with PDA had been surgically repaired in the infant at 38 days of age. A number of minor skeletal aberrations were also reported in the infant, including wormian bones at the lambdoid sutures. [5]

Genetics

Malpuech facial clefting syndrome has an autosomal recessive pattern of inheritance. Autosomal recessive - en.svg
Malpuech facial clefting syndrome has an autosomal recessive pattern of inheritance.

Malpuech syndrome, as with the other disorders within the 3MC syndrome consideration, is caused by mutations in the COLLEC11 and MASP1 genes. In an investigation by Rooryck et al. (2011), eleven families affected by 3MC syndrome were studied, which resulted in the identification of these two mutations. Both genes encode proteins of the lectin complement pathway, which plays a role in the complement system of innate, or non-specific immunity in humans and other species. [9]

The COLLEC11, or CL-K1 gene is located on the short arm of chromosome 2 (2p25.3) in humans. [21] The CL-K1 protein is a C-type lectin, and belongs to the collectin family of these proteins. Other than its role in innate immunity, the protein is thought to be involved in the development of tissues including craniofacial cartilage, the heart and kidney during embryogenesis. This function in facial development was corroborated through study of the zebrafish, where mutations in its version of CL-K1 contributed to craniofacial abnormalities (such as Craniofacial clefts) possibly associated with errors in neural crest cell migration. [9]

The short and long arm of a typical human chromosome. Chromarms.gif
The short and long arm of a typical human chromosome.

The MASP1, or Mannan-binding Serine Protease I gene is located on the long arm of human chromosome 3 at 3q27-q28. [22] The protein is a type of connectin called a mannan-binding lectin, which plays a role in innate immunity by binding to pathogens such as viruses including HIV. [23]

As described by Sirmaci et al. (2010), three Turkish individuals from two consanguineous families (the children of relatives such as cousins are said to be in a consanguineous family) with various characteristics of 3MC syndrome, including facial dysmorphism and a caudal appendage, were evaluated. Investigation of homologous chromosomes through gene mapping revealed an autozygous region (a location on a chromosome where both alleles of a gene originate from a common ancestor) at chromosome 3q27 in both families. In one family, a missense mutation in MASP1 at this location resulted in the replacement of the amino acid glycine by arginine at position 687 in the gene sequence. The mutation cosegregated with the observed phenotype. In individuals from the second family, DNA sequencing of MASP1 showed a nonsense mutation that resulted in a deactivation of tryptophan at position 290 in the gene, that also cosegregated with the phenotype. Both mutations occur in a form of MASP1 known to process IGFBP5; loss of this function associated with mutation of MASP1 causes disruptions in the availability of insulin-like growth factor during craniofacial and musculoskeletal development during the embryonic period. These results indicate that mutations in MASP1 are responsible for an array of features found with malformation disorders including Malpuech syndrome. [24]

The syndrome is inherited in an autosomal recessive manner. [10] This means the defective gene(s) responsible for the disorder (COLLEC11, MASP1) is located on an autosome (chromosomes 2 and 3 are autosomes), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.[ citation needed ]

Diagnosis

It is suggested that the diagnostic criteria for Malpuech syndrome should include cleft lip and/or palate, typical associated facial features, and at least two of the following: urogenital anomalies, caudal appendage, and growth or developmental delay. [25] Due to the relatively high rate of hearing impairment found with the disorder, it too may be considered in the diagnosis. Another congenital disorder, Wolf-Hirschhorn (Pitt-Rogers-Danks) syndrome, shares Malpuech features in its diagnostic criteria. Because of this lacking differentiation, karyotyping (microscopic analysis of the chromosomes of an individual) can be employed to distinguish the two. Whereas deletions in the short arm of chromosome 4 would be revealed with Wolf-Hirschhorn, a karyotype without this aberration present would favor a Malpuech syndrome diagnosis. Also, the karyotype of an individual with Malpuech syndrome alone will be normal. [15]

Classification

Malpuech syndrome has been shown to have physical, or phenotypical similarities with several other genetic disorders. A report by Reardon et al. (2001) of a nine-year-old boy exhibiting facial, caudal and urogenital anomalies consistent with Malpuech syndrome, who also had skeletal malformites indicative of Juberg-Hayward syndrome, suggests that the two disorders may be allelic (caused by different mutations of the same gene). [7]

Along with several other disorders that have similar, or overlapping features and autosomal recessive inheritance, Malpuech syndrome has been considered to belong under the designation "3MC syndrome". Titomanlio et al. (2005) described a three-year-old female known to have Michels syndrome. In their review of the physical similarities between Michels, Malpuech and Mingarelli-Carnevale syndromes—particularly the facial appearance including instances of cleft lip and palate, and ptosis, and a similarity of congenital abdominal and urogenital anomalies—they believed the syndromes may represent a spectrum of genetic disorders rather than three individual disorders. They initially suggested this spectrum could be named 3MC (Michels-Malpuech-Mingarelli-Carnevale) syndrome. [8] This conclusion and the name 3MC syndrome was supported by Leal et al. (2008), who reported a brother and sister with an array of symptoms that overlapped the various syndromes. [26] Further assertion of 3MC syndrome was by Rooryck et al. (2011) in an elaboration of its cause. [9]

Management

Many of the congenital malformations found with Malpuech syndrome can be corrected surgically. These include cleft lip and palate, omphalocele, urogenital and craniofacial abnormalities, skeletal deformities such as a caudal appendage or scoliosis, and hernias of the umbilicus. The primary area of concern for these procedures applied to a neonate with congenital disorders including Malpuech syndrome regards the logistics of anesthesia. Methods like tracheal intubation for management of the airway during general anesthesia can be hampered by the even smaller, or maldeveloped mouth of the infant. For regional anesthesia, methods like spinal blocking are more difficult where scoliosis is present. In a 2010 report by Kiernan et al., a four-year-old girl with Malpuech syndrome was being prepared for an unrelated tonsillectomy and adenoidectomy. While undergoing intubation, insertion of a laryngoscope, needed to identify the airway for the placement of the endotracheal tube, was made troublesome by the presence of micrognathia attributed to the syndrome. After replacement with a laryngoscope of adjusted size, intubation proceeded normally. Successful general anesthesia followed. [16]

A rare follow-up of a male with Malpuech syndrome was presented by Priolo et al. (2007). Born at term from an uneventful pregnancy and delivery, the infant underwent a surgical repair of a cleft lip and palate. No problems were reported with the procedure. A heart abnormality, atrial septal defect, was also apparent but required no intervention. At age three years, intellectual disability, hyperactivity and obsessive compulsive disorder were diagnosed; hearing impairment was diagnosed at age six, managed with the use of hearing aids. Over the course of the decade that followed, a number of psychiatric evaluations were performed. At age 14, he exhibited a fear of physical contact; at age 15, he experienced a severe psychotic episode, characterized by agitation and a loss of sociosexual inhibition. This array of symptoms were treated pharmacologically (with prescription medications). He maintained a low level of mental deficiency by age 17, with moments of compulsive echolalia. [15]

History

The incidence of Malpuech syndrome has not been determined. [16] A 1999 report by Crisponi et al. suggested that only about 12 individuals worldwide were affected by the disorder at that time. [19] The syndrome was first reported by Guilliaume Malpuech and colleagues in 1983, observed in four children of unspecified gender in what was described as a gypsy family. The children included three siblings and their first cousin; the family was known to be highly consanguineous. [6] [15]

Related Research Articles

<span class="mw-page-title-main">Cleft lip and cleft palate</span> Medical condition

A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders.

<span class="mw-page-title-main">Treacher Collins syndrome</span> Human genetic disorder

Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have normal intelligence.

Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate (CL/P), and cleft palate only (CPO). The frequency of orofacial clefts ranges from 1:1000 to 1:500 births worldwide, and there are more than 400 syndromes that involve CL/P. VWS is distinct from other clefting syndromes due to the combination of cleft lip and palate (CLP) and CPO within the same family. Other features frequently associated with VWS include hypodontia in 10-81% of cases, narrow arched palate, congenital heart disease, heart murmur and cerebral abnormalities, syndactyly of the hands, polythelia, ankyloglossia, and adhesions between the upper and lower gum pads.

<span class="mw-page-title-main">Fraser syndrome</span> Recessive genetic disorder involving eye and genital abnormalities

Fraser syndrome is an autosomal recessive congenital disorder, identified by several developmental anomalies. Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962.

<span class="mw-page-title-main">Popliteal pterygium syndrome</span> Medical condition

Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome. The term PPS was coined by Gorlin et al. in 1968 on the basis of the most unusual anomaly, the popliteal pterygium.

<span class="mw-page-title-main">Larsen syndrome</span> Medical condition

Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients. Patients with Larsen syndrome normally present with a variety of symptoms, including congenital anterior dislocation of the knees, dislocation of the hips and elbows, flattened facial appearance, prominent foreheads, and depressed nasal bridges. Larsen syndrome can also cause a variety of cardiovascular and orthopedic abnormalities. This rare disorder is caused by a genetic defect in the gene encoding filamin B, a cytoplasmic protein that is important in regulating the structure and activity of the cytoskeleton. The gene that influences the emergence of Larsen syndrome is found in chromosome region, 3p21.1-14.1, a region containing human type VII collagen gene. Larsen syndrome has recently been described as a mesenchyme disorder that affects the connective tissue of an individual. Autosomal dominant and recessive forms of the disorder have been reported, although most cases are autosomal dominant. Reports have found that in Western societies, Larsen syndrome can be found in one in every 100,000 births, but this is most likely an underestimate because the disorder is frequently unrecognized or misdiagnosed.

Abruzzo–Erickson syndrome is an extremely rare disorder characterized by deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, radial synostosis, and short stature. It was first characterized by Abruzzo and Erickson in 1977 as a CHARGE like syndrome as variably expressed among a family of two brothers, their mother, and their maternal uncle. Members of this family exhibited many of the CHARGE symptoms, but notably did not have choanal atresia and the brothers experienced typical genital development. Due to the recent discovery of this disorder, its etiology is not fully known but it is understood that it arises from mutations on the TBX22 gene on the X-chromosome. The disorder is inherited in an X-linked recessive manner. There is currently no known cure but its symptoms can be treated.

<span class="mw-page-title-main">Ectrodactyly–ectodermal dysplasia–cleft syndrome</span> Medical condition

Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome and split hand–split foot–ectodermal dysplasia–cleft syndrome is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as a genetic trait. EEC is characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections, obstruction of the nasolacrimal duct, decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eyelids, photophobia, occasional cognitive impairment and kidney anomalies, and conductive hearing loss.

<span class="mw-page-title-main">Hay–Wells syndrome</span> Medical condition

Hay–Wells syndrome is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.

<span class="mw-page-title-main">3C syndrome</span> Medical condition

3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. It was first described in the medical literature in 1987 by Ritscher and Schinzel, for whom the disorder is sometimes named.

<span class="mw-page-title-main">Frontonasal dysplasia</span> Medical condition

Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism, a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.

<span class="mw-page-title-main">Michels syndrome</span> Medical condition

Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, highly arched eyebrows, and hypertelorism. People with Michels syndrome vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, cleft lip and palate, umbilical anomalies, and growth and cognitive development.

Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure.

<span class="mw-page-title-main">Fryns syndrome</span> Medical condition

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.

A malformative syndrome is a recognizable pattern of congenital anomalies that are known or thought to be causally related.

A facial cleft is an opening or gap in the face, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare congenital anomalies. There are many variations of a type of clefting and classifications are needed to describe and classify all types of clefting. Facial clefts hardly ever occur isolated; most of the time there is an overlap of adjacent facial clefts.

<span class="mw-page-title-main">Goldberg–Shprintzen syndrome</span> Medical condition

Goldberg–Shprintzen is a very rare connective tissue condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filaments. KBP may play a key role in cytoskeleton formation and neurite growth.

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome, also simply known as Hartsfield syndrome, is a rare genetic disorder characterized by the presence of variable holoprosencephaly, ectrodactyly, cleft lip and palate, alongside generalized ectodermal abnormalities. Additional findings include endocrine anomalies and developmental delays.

The Crane–Heise syndrome is a very rare and lethal birth defect without a known cause. It was first described in a 1981 publication, and its main signs are facial malformations, lack of bone mineralization, and musculoskeletal anomalies.

References

  1. 1 2 Online Mendelian Inheritance in Man (OMIM): Malpuech facial clefting syndrome - 248340
  2. 1 2 Adeleye, A. O.; Olowookere, K. G. (Sep–Oct 2010). "A Human Tail in an Infant (Letter)". West African Journal of Medicine. 29 (5): 356–358. PMID   21089026.
  3. 1 2 3 4 Guion-Almeida, M. L. (Jul 1995). "Apparent Malpuech syndrome: Report on three Brazilian patients with additional signs". American Journal of Medical Genetics. 58 (1): 13–17. doi:10.1002/ajmg.1320580104. PMID   7573149.
  4. 1 2 3 4 Kerstjens-Frederikse, W. S.; Brunner, H. G.; Van Dael, C. M.; Van Essen, A. J. (May 2005). "Malpuech syndrome: Three patients and a review". American Journal of Medical Genetics Part A. 134 (4): 450–453. doi:10.1002/ajmg.a.30662. PMID   15793834. S2CID   11903742.
  5. 1 2 3 Chinen, Y.; Naritomi, K. (Dec 1995). "Malpuech facial clefting syndrome in a Japanese boy with cardiac defects". The Japanese Journal of Human Genetics. 40 (4): 335–338. doi: 10.1007/BF01900601 . PMID   8851768.
  6. 1 2 3 4 Malpuech, G.; Demeocq, F.; Palcoux, J. B.; Vanlieferinghen, P.; Opitz, J. M. (Dec 1983). "A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies". American Journal of Medical Genetics. 16 (4): 475–480. doi:10.1002/ajmg.1320160405. PMID   6660246.
  7. 1 2 3 Reardon, W.; Hall, C. M.; Gorman, W. (Apr 2001). "An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes". Clinical Dysmorphology. 10 (2): 123–128. doi:10.1097/00019605-200104000-00009. PMID   11310992.
  8. 1 2 Titomanlio, L.; Bennaceur, S.; Bremond-Gignac, D.; Baumann, C.; Dupuy, O.; Verloes, A. (Sep 2005). "Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?". American Journal of Medical Genetics Part A. 137A (3): 332–335. doi: 10.1002/ajmg.a.30878 . PMID   16096999.
  9. 1 2 3 4 Rooryck, C.; Diaz-Font, A.; Osborn, D. P.; Chabchoub, E.; Hernandez-Hernandez, V.; Shamseldin, H.; Kenny, J.; Waters, A.; Jenkins, D.; Kaissi, A. A.; Leal, G. F.; Dallapiccola, B.; Carnevale, F.; Bitner-Glindzicz, M.; Lees, M.; Hennekam, R.; Stanier, P.; Burns, A. J.; Peeters, H.; Alkuraya, F. S.; Beales, P. L. (Mar 2011). "Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome". Nature Genetics. 43 (3): 197–203. doi:10.1038/ng.757. PMC   3045628 . PMID   21258343.
  10. 1 2 3 Turnbull, C.; Lees, M.; Chitty, L. S. (Dec 2006). "Prenatal sonographic diagnosis of Malpuech syndrome". Prenatal Diagnosis. 26 (12): 1121–1123. doi:10.1002/pd.1564. PMID   17019743. S2CID   37837710.
  11. ↑ "Midline cleft lip in children". Wrongdiagnoysis.com. Retrieved February 27, 2011.
  12. ↑ "FACE - DIAGNOSIS OF CONGENITAL ABNORMALITIES - THE 18-23 WEEKS SCAN". Centrus.com.br. Archived from the original on November 21, 2010. Retrieved November 16, 2010.
  13. ↑ "Definition of facial clefting". Medilexicon.com. Retrieved November 7, 2010.
  14. ↑ "Rare facial cleft: 14-mth-old Hunan boy Kang Kang born with a 'mask'". Whatsonxiamen.com. Retrieved November 8, 2010.
  15. 1 2 3 4 5 Priolo, M; Ciccone, R; Bova, I; Campolo, G; Lagana, C; Zuffardi, O (Mar–Apr 2007). "Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH". European Journal of Medical Genetics. 50 (2): 139–143. doi:10.1016/j.ejmg.2006.10.004. PMID   17140870.
  16. 1 2 3 Kiernan, F; Crowe, S (Apr 2010). "Malpuech syndrome: implications for anesthetic management". Pediatric Anesthesia. 20 (4): 370–371. doi:10.1111/j.1460-9592.2010.03271.x. PMID   20470345. S2CID   36036433.
  17. ↑ Singh, D.; Kumar, B.; Sinha, V.; Bagaria, H. (Sep 2008). "The human tail: rare lesion with occult spinal dysraphism—a case report". Journal of Pediatric Surgery. 43 (9): e41–43. doi:10.1016/j.jpedsurg.2008.04.030. PMID   18778987.
  18. ↑ Finn and Lynch (2006), illustration, p. 243.
  19. 1 2 Crisponi, G.; Marras, A. R.; Corrias, A. (Sep 1999). "Two sibs with Malpuech syndrome". American Journal of Medical Genetics. 86 (3): 294–299. doi:10.1002/(SICI)1096-8628(19990917)86:3<294::AID-AJMG20>3.0.CO;2-2. PMID   10482884.
  20. ↑ Online Mendelian Inheritance in Man (OMIM): Patent ductus arteriosus - 607411
  21. ↑ Online Mendelian Inheritance in Man (OMIM): COLLEC11 - 612502
  22. ↑ Online Mendelian Inheritance in Man (OMIM): MASP1 - 600521
  23. ↑ Ji, X; Gewurz, H; Spear, G (2005). "Mannose binding lectin (MBL) and HIV". Molecular Immunology. 42 (2): 145–52. doi:10.1016/j.molimm.2004.06.015. PMID   15488604.
  24. ↑ Sirmaci, A.; Walsh, T.; Akay, H.; Spiliopoulos, M.; Şakalar, Y. L. R. M. B.; Hasanefendioğlu-Bayrak, A.; Duman, D.; Farooq, A.; King, M. C.; Tekin, M. (2010). "MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes". The American Journal of Human Genetics. 87 (5): 679–686. doi:10.1016/j.ajhg.2010.09.018. PMC   2978960 . PMID   21035106.
  25. ↑ Finn, S. M.; Lynch, S. A. (Oct 2006). "Malpuech syndrome: facial features in the absence of clefting". Clinical Dysmorphology. 15 (4): 243–244. doi:10.1097/01.mcd.0000220621.85896.46. PMID   16957483.
  26. ↑ Leal, G. F.; Silva, E. O.; Duarte, A. R.; Campos, J. F. (Apr 2008). "Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?". American Journal of Medical Genetics Part A. 146A (8): 1059–1062. doi:10.1002/ajmg.a.32252. PMID   18266249. S2CID   30650544.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.