Egyptian Journal of Medical Human Genetics

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Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child

Rabah M. Shawky, Radwa Gamal


We report a 6 year old child, second in order of birth of non consanguineous Egyptian parents with typical characteristics of Christ-Siemens-Touraine syndrome. The patient had sparse light hair over the scalp, scanty eyebrows and eyelashes, a high arched cleft palate, decayed oligodontic teeth, hyperpigmentation all over the body more marked in cheeks, perioral area, chin, neck, axillae and back of both knees, fragile dry skin, hyperextensibility of the metacarpophalangeal joints, dysplastic nails and absent nipples. Our patient had also gallstones which were not reported previously and mild mental retardation. His mother had mild teeth abnormalities.
AJOL African Journals Online