Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.
Am J Med Genet
; 27(1): 183-8, 1987 May.
Article
en En
| MEDLINE
| ID: mdl-3300331
Microcephaly, intrauterine growth retardation, a hellenic nose, and severe micrognathia were diagnosed as a form of bird-headed dwarfism (Seckel-like) syndrome in a female infant. In the subsequent pregnancy, monitored by serial ultrasound examinations, severe growth retardation was established at 17 and 20 weeks of pregnancy. The head circumference was disproportionately small in relation to the abdominal circumference and enabled the diagnosis of microcephaly. There was also extreme micrognathia. The pregnancy was terminated, and the diagnosis of a Seckel-like syndrome of bird-headed dwarfism was confirmed at autopsy of the male fetus. This variant of bird-headed dwarfism has probably autosomal recessive inheritance. Ultrasonic assessment of the facial area together with the measurements of fetal head and abdominal circumference are essential in the early prenatal diagnosis of this syndrome in pregnancies of reliably established duration.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Retardo del Crecimiento Fetal
/
Microcefalia
/
Micrognatismo
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Am J Med Genet
Año:
1987
Tipo del documento:
Article
Pais de publicación:
Estados Unidos