We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/aplastic changes of the bones of the hands and feet with dysharmonic ossification, severely delayed bone age, microcrania, and fibular hypoplasia. Parental consanguinity suggests autosomal recessive inheritance. An additional three cases [Eiken et al., 1984: Eur J Pediatr 141: 231-235] sharing some of the radiographic manifestations of this patient have been reported. However, distinctive findings in the present case seem to outline a separate entity.

Castriota Scanderbeg, A., Zelante, L., Masala, S., Gasparini, P., Lachman, R. (1999). Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia. AMERICAN JOURNAL OF MEDICAL GENETICS, 84(1), 68-73 [10.1002/(SICI)1096-8628(19990507)84:1<68::AID-AJMG13>3.0.CO;2-J].

Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia

MASALA, SALVATORE;
1999-05-07

Abstract

We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/aplastic changes of the bones of the hands and feet with dysharmonic ossification, severely delayed bone age, microcrania, and fibular hypoplasia. Parental consanguinity suggests autosomal recessive inheritance. An additional three cases [Eiken et al., 1984: Eur J Pediatr 141: 231-235] sharing some of the radiographic manifestations of this patient have been reported. However, distinctive findings in the present case seem to outline a separate entity.
7-mag-1999
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/36 - DIAGNOSTICA PER IMMAGINI E RADIOTERAPIA
English
Con Impact Factor ISI
Consanguinity; Bone and Bones; Age Determination by Skeleton; Humans; Growth Disorders; Hand Deformities, Congenital; Child; Calcification, Physiologic; Foot Deformities, Congenital; Fibula; Female; Osteogenesis
Castriota Scanderbeg, A., Zelante, L., Masala, S., Gasparini, P., Lachman, R. (1999). Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia. AMERICAN JOURNAL OF MEDICAL GENETICS, 84(1), 68-73 [10.1002/(SICI)1096-8628(19990507)84:1<68::AID-AJMG13>3.0.CO;2-J].
Castriota Scanderbeg, A; Zelante, L; Masala, S; Gasparini, P; Lachman, R
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/70168
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