He was noted to have unilateral congenital ptosis, clinodactyly affecting the index and ring fingers, bilateral thumb adduction, and upper limb weakness at birth, with symptoms of Hirschsprungs disease showing 24 hours after he was born. He was psychomotorly delayed. CT scans showed brain growth delay, corpus callosum agenesis, and a hypoplastic inferior vermis and cerebellum. Electroencephalograms gave abnormal results. He was born weighing 3.09 kilograms, being 49 cm long, and with a head circumference of 33.5 cm. The second case was his 24-year-old maternal uncle. He was psychomotorly delayed like his nephew, and he noted to have pectus excavatum and speckled irises only. CT scans showed only corpus callosum agenesis. His head circumference at the time was 52 cm. Chromosomal analysis done on the proband child, his mother and his uncle was normal. Family history on the mothers family only revealed a distant third-cousin with Hirschsprungs disease, her two other brothers were normal, and she went on to have a normal female pregnancy. 1992: Kang et al. describes 4 male children each from 4 different sibships belonging to an ethnic Chinese Taiwanese family, constituting the first case report of X-linked complicated corpus callosum dysgenesis in China. Said children had microcephaly, spasticity, intellectual disabilities, hydrocephalus, and facial dysmorphisms. Some of them had an interhemispheric cyst. 2006: Basel-Vanagaite et al. describes 2 Israeli Jewish brothers who both had partial corpus callosum agenesis alongside mild intellectual disability. One of the siblings had bilateral congenital radial head dislocation and Hirschsprungs disease.
Genetic testing revealed a missense mutation (p.P240L) in exon 7 of the L1CAM gene. == References ==