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PubMed1971

Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis.

Holoprosencephaly is frequently associated with facial dysmorphia and together these anomalies constitute a single developmental field. Because the abnormalities within this field represent a spectrum and because they may be associated with various patterned groups of extracephalic anomalies, they should not usually be considered a disorder sui generis, but a "symptom-complex" which may occur in a variety of disorders. Etiologic heterogeneity is a sine qua non of holoprosencephaly with facial dysmorphia. At the present time it is not known how many distinct formal genesis syndromes with holoprosencephaly and facial dysmorphia may exist for reasons cited in this paper. However, three distinct causal genesis syndromes (trisomy 13 syndrome, 18p- syndrome and Dq- syndrome) are known to occur. An autosomal recessive form also seems likely. Cytogenetic findings and various genetic possibilities are discussed. A pathogenetic hypothesis is presented in which holoprosencephaly with severe facial dysmorphia (synophthalmia or ocular hypotelorism, proboscis formation) is thought to arise from faulty embryonic interaction between the cephalic tip of the notochordal plate, the neuroectoderm of the brain plate and the oral plate.

Abnormalities, Multiple↗
PubMed1971

Classification of albinism in man.

Genetic, tissue culture and ultrastructural studies demonstrate the heterogeneous nature of oculocutaneous albinism and a proposed classification based on these criteria is given. Six mutations are identified and the population frequencies of the common forms are determined. Some forms have, in addition to a pigment defect, abnormalities in platelets, glycolipids and chromosomes. In tyrosinase positive albinism, both in vitro and in vivo pigment formation can be induced by 1-tyrosine or 1-dopa.

Adolescent↗
PubMed1971

Congenital anomalies of the retina.

Review of 50 histopathologic cases and a number of clinical cases of congenital retinal anomalies has permitted classification under the following headings: 1) Coloboma-orbital cyst--"anophthalmos" group due to aberrant closure of the embryonic fissure; 2) Retinal fold-central stalk-detachment group comprising a series that varies from simple retinal folds to total retinal detachment and anomalous stalk formation. Cases of the 13-15 trisomy syndrome constitute a special subgroup in this rubric; 3) Retrolental fibroplasia, due to hyperoxia of premature infants, is manifest by "dragged" disks and gliovascular proliferation with occasional detachment; 4) Persistent hyaloid system is occasionally associated with mild anomalies of the retina; 5) Massive gliosis of the retina is usually a hamartomatous manifestation; 6) Congenital absence of ganglion cells occurs with cerebral maldevelopment and 7) Congenital absence of the photoreceptors is the congenital form of retinitis pigmentosa.

Abnormalities, Multiple↗