Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig

Clinical Features

In 2 brothers born of nonconsanguineous parents, Lin and Gettig (1990) found midline craniosynostosis, agenesis of the corpus callosum, severe mental retardation, unusual face (small downslanting palpebral fissures, ptosis, strabismus, long hypoplastic philtrum, short columella and thin lips), contractures, camptodactyly, hypospadias, hypogonadism, and gastrointestinal malformations including small omphalocele and multiple small bowel atresias. The brothers were 7 years and 22 months old, respectively, at the time of the report. It was suggested that the younger brother resembled patients with the Opitz C (211750) syndrome because of the presence of trigonocephaly.

Hedera and Innis (2002) reported a boy with findings suggestive of the craniosynostosis-mental retardation syndrome of Lin and Gettig: craniosynostosis of both lambdoid and sagittal sutures, complete agenesis of the corpus callosum and Chiari I malformation, severe mental retardation, contractures, camptodactyly, hypogonadism, low-set and small ears, profound sensorineural hearing loss, and narrow chest with widely spaced nipples. He had normal postnatal growth, a cleft palate, and absence of REM sleep. Karyotype and FISH analysis using a subtelomeric DNA probe panel to detect cryptic telomeric rearrangements or deletions were normal.