Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome.
We report clinical, orofacial and radiological manifestations in a 4-year-old girl and a 33-year-old female with the Gorlin-Chaudhry-Moss (GCM) syndrome. Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly arched and narrow palate, malocclusion, abnormally shaped teeth, oligodontia, microdontia, low scalp hairline, hypertrichosis of scalp, face, trunk and limbs and genital hypoplasia. Radiological features include premature synostosis of the coronal suture, brachycephaly, and maxillary under-development. Hypoplasia of the distal phalanges of fingers and toes (also present in the 2 original cases) represents a further manifestation of the GCM syndrome.
Ippel
P F
PF
Clinical Genetics Center, State University Utrecht, The Netherlands.
Gorlin
R J
RJ
Lenz
W
W
van Doorne
J M
JM
Bijlsma
J B
JB
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics / Q000473:pathology; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics / Q000473:pathology; D011859:Radiography; D013577:Syndrome; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics