Abstract |
Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. Since 1960, only six affected individuals have been reported. We report a 4-year and 6-month-old female patient with this phenotype and review the clinical presentation of all patients known so far. Previously unreported malformations of the extremities, larynx, and nose are also described, expanding the phenotype of this rare syndrome. Array-CGH analysis did not show pathological deletions or duplications.
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Authors | Rasim O Rosti, Kadri Karaer, Birsen Karaman, Deniz Torun, Sefik Guran, Muhterem Bahce |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 161A
Issue 7
Pg. 1737-42
(Jul 2013)
ISSN: 1552-4833 [Electronic] United States |
PMID | 23686885
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2013 Wiley Periodicals, Inc. |
Topics |
- Abnormalities, Multiple
(etiology, genetics)
- Child, Preschool
- Chromosomes, Human, Pair 12
- Craniofacial Abnormalities
(etiology, genetics)
- DNA Copy Number Variations
- Ductus Arteriosus, Patent
(etiology, genetics)
- Female
- Growth Disorders
- Hand Deformities, Congenital
(etiology)
- Humans
- Hypertrichosis
(etiology, genetics)
- Infant
- Larynx
(abnormalities)
- Nose
(abnormalities)
- Phenotype
- Progeria
- Toes
(abnormalities)
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