An oculocerebral hypopigmentation syndrome.

An oculocerebral hypopigmentation syndrome consisting of growth retardation, dolichocephaly, cataracts, high arched palate, small, widely spaced teeth, generalized hypopigmentation, psychomotor retardation, progressive neurological manifestations and hypochromic anemia is described in sibs. The finding of parental consanguinity supports autosomal recessive inheritance. The syndrome resembles the Cross syndrome (1,2).

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.

We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congenital heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism.

Congenital absence of the heart: observation of human funiculopagous twinning with insertio funiculi furcata, fusion, forking, and interpositio velamentosa.

An anatomic and radiologic study of a normal and acardius twinning with a single placenta is presented with literature review. The fetus was unusually well-developed with an almost normal skeletal and brain formation, a normal genito-urinary tract, and an absence of liver, spleen, lungs, and pancreas. The heart was absent but the great arteries, single aorta, and veins were present.

Miliary fungal granulomata confined to the brain: mechanism of meningitis.

An unusual case of multiple giant cell granulomata due to Candida albicans confined to the brain of a premature neonate is reported, with evidence to suggest that this fungal meningitis is preceded by a parenchymal focus.