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Oculo‐palato‐cerebral dwarfism: a new syndrome
Author(s) -
Frydman Moshe,
Kauschansky Arieh,
Leshem Israel,
Savir Hanna
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb02286.x
Subject(s) - dwarfism , short stature , microcephaly , consanguinity , cerebral atrophy , medicine , offspring , atrophy , pediatrics , spasticity , endocrinology , biology , pathology , genetics , pregnancy , physical medicine and rehabilitation , gene
Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous, and short stature. In one patient brain atrophy was documented. All the affected individuals had severe asthma and it is thought that the asthma is associated with the syndrome complex. Genetic transmission is most likely autosomal recessive. We believe this constellation of findings to be a new genetic syndrome and have termed it the oculo‐palato‐cerebral dwarfism syndrome.