Open AccessA case report of prenatally detected achondrogenesis type II with an occipital cephalocele
Author(s) -
Behnaz Moradi,
Khadijeh Adabi,
Mohamad Ali Kazemi,
Farzaneh Fattahi Masrour
Publication year - 2017
Publication title -
asian pacific journal of reproduction
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.167
H-Index - 17
eISSN - 2305-0519
pISSN - 2305-0500
DOI - 10.4103/2305-0500.215936
Subject(s) - medicine , encephalocele , ossification , anatomy , occipital bone , skull
Achondrogenesis is a very rare lethal skeletal disorder. Here we describe a case of prenatally diagnosed achondrogenesis type Ⅱ in a 28 year-old woman at (17+4) wk. She had history of 5 first trimester missed abortions. The couple is consanguineous. Ultrasonography showed extreme micromelia, short neck and trunk, large head and prominent abdomen. Delayed ossification in sacral bones was detected and ossification of pubic rami was poor. There were associated large cystic hygroma, anasarca and also high occipital cephalocele. Posterior fossa was normal. Mild hypothelorism, depressed nasal bridge, low set ear and mild retrognathia were identified too. Amniocentesis result was compatible with a normal female fetus. Post mortem whole body radiography confirmed the diagnosis. To our knowledge, this is the second case report with association of cephalocele and achondrogenesis type Ⅱ