arhinencephaly

arhinencephaly

(ā″rīn-ĕn-sef′ă-lē) [ ¹an- + rhinencephalon]
Incomplete formation of the anterior cerebral hemispheres of the brain and related or neighboring structures.
References in periodicals archive ?
Various clinical presentations of AOS include oligohydramnios, cutis marmorata, upper limb micromelia and brachypodia, acrania, microcephaly, palatine or auricular malformations, intracranial calcifications, hydrocephaly, arhinencephaly, spina bifida, epilepsy, mental retardation, anatomic bronchial anomalies, renal abnormalities, and cardiovascular anomalies such as bicuspid aortic valve, atrial septal defect, Shone's complex, aortic valve stenosis, hypoplastic left heart syndrome, tetralogy of Fallot, double outlet right ventricle, portal hypertension and pulmonary hypertension.11,12 Our patient had cutis marmorata telangiectatica, aplasia cutis congenita, and terminal transverse limb reduction defects.
Nearly all cases have occurred sporadically, however apparent genetic transmission has been described in two families (5,11) .Children with LWNH often have otherwise normal physical and neurologic development, however individual cases occurring along with chromosomal anomalies like mosaic trisomy of 7, 14, 18, 20 and X chromosomal mosaicism, congenital heart diseases (ventricular septal defect and tetralogy of Fallot) (12), CNS diseases (microcephaly, arhinencephaly and epilepsy) (13), psychomotor delay, deafness and brachydactyly have been mentioned in the literature.
A 46 chromosome cebocephaly, with remarks on the relation of 13-15 trisomy to holoprosencephaly (arhinencephaly).
Orbital hypertelorism, arhinencephaly and trigonocephaly.
The face predicts the brain: diagnosticsignificance of median facial anomalies for holoprosencephaly (arhinencephaly).
Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, eletroencephalographic and nosologic considerations.