Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed.
Am J Med Genet
; 69(2): 126-32, 1997 Mar 17.
Article
en En
| MEDLINE
| ID: mdl-9056548
We are reporting on 16 children, in 6 unrelated sibships, born to healthy, consanguineous parents of Bedouin ancestry. Eleven of them were assessed clinically. All presented with marked growth retardation, craniofacial anomalies, small hands and feet, hypocalcemia, hypoparathyroidism, radiological evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull. There was a history of 6 affected sibs dying in infancy with hypocalcemic convulsions. All cases show absence of macrocephaly and early psychomotor retardation. The present cases confirm the presence of clinical variability and co firm autosomal recessive inheritance of Kenny-Caffey syndrome.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Brazo
/
Trastornos Psicomotores
/
Anomalías Múltiples
/
Árabes
/
Anomalías Craneofaciales
/
Pierna
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Am J Med Genet
Año:
1997
Tipo del documento:
Article
País de afiliación:
Kuwait
Pais de publicación:
Estados Unidos