A patient with Gorlin-Chaudhry-Moss syndrome and del(9)(q22.1q22.3)

Abstract

We report a patient with a rare 9q deletion and features of Gorlin-Chaudhry-Moss syndrome (GCM). At age 3, the patient presented with acrocephaly, small maxilla, low frontal hairline, two occipital hair whorls, epicanthal folds, hypotelorism and prominent eyes with strabismus and nystagmus, and oval irides. She also had synophrys, low set ears, a tuft of hair on her nose, cleft tip of the nose, thin upper lip, downtumed corners of the mouth, high arched palate, webbing between the gums and buccal mucosa, wide alveolar ridge and dental anomalies including fusion of some teeth, mild pectus excavatum, 5th finger clinodactyly, left transverse palmar crease, short 4th metacarpals, overlapping toes 2-3, and thoracic scoliosis. She had persistent rhinorrhea and serous otitis media requiring PE tubes. She was not walking or talking. Karyotype was 46, XX, del(9)(q22.1q22.3). Mother's karyotype was normal and father was unavailable. CT scan identified agenesis of the corpus callosum. At age 21 she had moderate mental retardation and spoke in short phrases with unclear speech. Numerous scars on her arms were secondary to skin picking. Surgeries included spinal fusion with Harrington rod placement and removal of 5 odontogenic cysts. Right retinal detachment and cataract had occurred and she continued to have rhinorrhea and serous otitis. Acrocephaly, coarse facies, shallow orbits with prominent eyes, oval irides, synophrys, right ptosis, midface hypoplasia, prominent chin, hypodontia, short 4th metacarpals, and hypoplastic and dysplastic finger and toenails were noted.GCM was first reported in sisters with craniofacial dysostosis, hypertrichosis, dental and eye anomalies, patent ductus arteriosus, and mental retardation. Other features included short 4th metacarpals and distal phalanges. Two other unrelated females have been identified and all four patients had hypertrichosis, low frontal hairline, conductive hearing loss, and coarsening of facial features with time. Autosomal recessive inheritance was postulated.We are unaware of other subjects with this deletion though 9q22-q32 deletions have been reported to have mental retardation, seizures, hypotelorism, sclerocornea, duodenal atresia, malrotation, hydronephrosis, preaxial polydactyly and syndactyly of the toes. Our findings suggest that GCM may represent a contiguous gene syndrome residing within the 9q22.1-q22.3 segment. Our patient's more severe mental retardation may be secondary to deletion of other genes on 9q.