Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome?

Article

Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome?

Genetic counseling (Geneva, Switzerland) - 1 Jan 1997

Mégarbané A, Abi Moussa M

Abstract excerpt

A new MCA/MR syndrome?: Two sibs are described who shares as clinical features microcephaly, short stature, deep set eyes, thick eyebrow, straight long nose with prominent bridge, septum extending below alae nasi, short philtrum, small mouth, high palate, prominent everted lower lip, and brachyte...

Topics

Abnormalities, Multiple
Adolescent
Adult
Craniofacial Abnormalities
Dwarfism
Fingers
Hand Deformities, Congenital
Humans
Intellectual Disability
Male
Microcephaly
Phenotype
Syndrome

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