Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2)
Am J Med Genet
; 41(2): 225-9, 1991 Nov 01.
Article
em En
| MEDLINE
| ID: mdl-1785639
ABSTRACT
We report clinical and cytogenetic findings of 4 children (2 boys and 2 girls) with the Smith-Magenis syndrome. All 4 patients had an interstitial deletion of 17p del(17) (p11.2p11.2). Their clinical manifestations included brachycephaly, midface hypoplasia, prognathism, upper lip eversion, short and broad hands with short fingers, clinodactyly of the fifth fingers, fingertip pads, moderate mental retardation, and behavior problems. Analysis of the metacarpophalangeal pattern profiles in patient 2 showed progressive shortness from the metacarpals to the proximal, middle, and the distal phalanges. The fingerpads observed in all 4 patients have hitherto been noted in only one of 26 previously reported patients with the syndrome. These findings serve as a useful clue to the diagnosis of the syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 17
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Deformidades Congênitas da Mão
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Aberrações Cromossômicas
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Deleção Cromossômica
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
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Child, preschool
/
Female
/
Humans
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Male
Idioma:
En
Ano de publicação:
1991
Tipo de documento:
Article