A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency

J A Hurst; M Baraitser; R M Winter

doi:10.1002/ajmg.1320280423

A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency

Am J Med Genet. 1987 Dec;28(4):965-70. doi: 10.1002/ajmg.1320280423.

Authors

J A Hurst¹, M Baraitser, R M Winter

Affiliation

¹ Department of Clinical Genetics, Hospital for Sick Children, London, United Kingdom.

PMID: 3688035
DOI: 10.1002/ajmg.1320280423

Abstract

We describe a brother and sister with mental retardation, short stature, delayed puberty, spherocytic anemia, and an abnormal facial appearance. The similarities to a child with aldolase A deficiency are discussed.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics
Adolescent
Adult
Anemia, Hemolytic, Congenital / genetics*
Chromosome Aberrations / genetics
Chromosome Disorders
Dwarfism / genetics*
Face / abnormalities*
Female
Fructose-Bisphosphate Aldolase / deficiency*
Genes, Recessive
Humans
Intellectual Disability / genetics*
Male
Puberty, Delayed / genetics*
Syndrome

Substances

Fructose-Bisphosphate Aldolase