Total: 1 |
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PMID (PMCID) | ||
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10190476 |
FEMALE | Infant, Newborn |
Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: a new variant? | ||
Fujiwara I, Kondo Y, Iinuma K. Am J Med Genet. 1999;83(2):77-81. |
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We report on a 20-month-old girl with hypothalamic hamartoma, left cerebral atrophy, tongue nodules, oral frenula, micrognathia, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and hydronephrosis, agenesis of urethra, complex partial seizures, and central precocious puberty. |