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
Less than 10 cases have been reported in the
Characteristic features include dental anomalies,
multiple eye malformations, and craniofacial dysostosis with genital and
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
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