Spectrum of severe skeletal dysplasias in North India.
Indian J Pediatr
;
2007 Nov; 74(11): 995-1002
Artículo
en Inglés
| IMSEAR
| ID: sea-80660
ABSTRACT
OBJECTIVE:
Severe skeletal dysplasias are a group of bone growth disorders characterized by a lethal outcome in utero or infancy. We describe our experience of the severe skeletal dysplasias diagnosed amongst fetal autopsies done at a tertiary level centre over a five year period.METHODS:
We evaluated 15 cases with short limbed dwarfism, of which 13 fetuses were examined after termination of pregnancy and two were evaluated postnatally.RESULTS:
Short rib dysplasia syndromes with or without polydactyly, osteogenesis imperfecta type II, thanatophoric dysplasia, campomelic dysplasia, chondrodysplasia punctata, rhizomelic type and achondrogenesis were the lethal skeletal dysplasias diagnosed.CONCLUSION:
Precise identification of the tye of skeletal dysplasia is paramount for proper genetic counseling. Postnatal examination and detailed radiographic examination of the fetus especially of the pelvis, limbs, skull and spine are essential to identify the type of skeletal dysplasia.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Enfermedades del Desarrollo Óseo
/
Femenino
/
Humanos
/
Embarazo
/
Estudios Retrospectivos
/
Ultrasonografía Prenatal
/
India
Tipo de estudio:
Estudio diagnóstico
/
Estudio observacional
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2007
Tipo del documento:
Artículo
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