Preferred Label : membranous cranial ossification, delayed;
Définition CISMeF : Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia
characterized by absent ossification of calvarial bones at birth and characteristic
facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures,
proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a
soft skull at birth which, over time, progressively ossifies and in adulthood typically
results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal
abnormalities are associated and patients have normal cognitive and motor development.;
Origin ID : C563592;
UMLS CUI : C1835030;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- MeSH term(s) associated for indexing
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia
characterized by absent ossification of calvarial bones at birth and characteristic
facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures,
proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a
soft skull at birth which, over time, progressively ossifies and in adulthood typically
results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal
abnormalities are associated and patients have normal cognitive and motor development.
