[A case of type II achondrogenesis].
We describe a rare case of type II achondrogenesis (gestational age = thirty-two weeks) dead forty-five minutes after birth. This congenital skeletal dysplasia is classified among the lethal osteochondrodysplasias. Clinical features were enough for diagnosis and autopsy added nothing to our clinical knowledges.
Micheli
E
E
Divisione di Pediatria, Modulo Funzionale di Neonatologia, Copertino, Italia.
Perrone
C
C
Quarta Colosso
L
L
Vetrugno
M
M
Zecca
G
G
Indirli
G C
GC
Greco
F
F
Elia
G
G
Ciancio
S
S
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy
Un caso di acondrogenesi tipo II.