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Very rare syndrome characterized by craniosynostosis, midfacial hypoplasia, hypertrichosis, and anomalies of the heart, eyes, teeth, and external genitalia.

Craniofacial Dysostosis, Genital, Dental, Cardiac Syndrome; Craniofacial Dysostosis, Hypertrichosis, Hypoplasia of Labia Majora Syndrome.

Less than 10 cases have been reported in the literature.

Autosomal recessive.


Characteristic features include dental anomalies, multiple eye malformations, and craniofacial dysostosis with genital and cardiac anomalies.

Patients present with either normal intelligence or mild mental retardation and short stature. This complex polymalformative syndrome associates facial anomalies that involve eyes (microphthalmos, down-slanted fissures, coloboma of the eyelid, defect of lacrimal system), mouth (anodontia or oligodontia, high-vaulted, narrow palate, cleft soft palate), ear (hypoplastic lobe and deafness), and skull (midface hypoplasia, brachycephaly, premature synostosis of the coronal sutures, hypertelorism, low hairline, and elevation of the lesser sphenoid wings). Other features include skeletal abnormalities (syndactyly of fingers, hypoplastic distal phalanges of hands and feet, and pectus excavatum), external female genitalia anomalies (hypoplasia of the labia majora, short vagina, and malformed uterus), umbilical hernia, hypertrichosis, and patent ductus arteriosus.

Assess for signs of difficult intubation (clinical, radiographs) and evaluate cardiac function (clinical, echography, radiographs), particularly to determine size of the patent ductus arteriosus and the pulmonary artery pressure.

Careful intraoperative positioning is needed because of skeletal malformations. Face-mask ventilation and direct laryngoscopy can be difficult because of craniofacial anomalies. Venous access and pulse oximetry can be a challenge because of limb deformations and dermatoglyph modifications.

Anesthetic drug choice must consider the existence of a patent ductus arteriosus with potentially increased pulmonary arterial pressures.

Gorlin RJ, Chaudry AP, Moss ML: Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies: A new syndrome? J Pediatr 56:778, 1960.  [PubMed: 13851313]
Ippel PF, Gorlin RJ, Lenz W, et al: Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: Confirmation of the Gorlin-Chaudry-Moss syndrome. Am J Med Genet 44:518, 1992.  [PubMed: 1442899]

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