A case of septo-optic-pituitary dysplasia associated with bilateral cleft lip and alveolus
نویسندگان
چکیده
منابع مشابه
Unilateral Closed Lip Schizencephaly with Septo-Optic Dysplasia
Schizencephaly is a rare malformation of the central nervous system. Both genetic and non-genetic etiologies like prenatal infections or ischemia have been postulated. Clinical manifestations most often include varying degrees of developmental delay, motor impairment and seizures. It can be associated with septo-optic dysplasia (SOD), optic nerve hypoplasia and absence of septum pellucidum, pac...
متن کاملSepto-optic dysplasia: a case report.
Septo-optic dysplasia also referred to as de Morsier syndrome and is a disorder of early brain development. Three characteristic features are under development (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain (such as absence of septum pellucidum and corpus callosum dysgenesis) and pituitary hypoplasia. CASE REPORT Female, born at 40 weeks of gest...
متن کاملMaxillary arch width in unoperated adult bilateral cleft lip and alveolus and complete bilateral cleft lip and palate.
OBJECTIVES To study maxillary arch width in adult patients with bilateral cleft lip and alveolus (BCLA) or with complete bilateral cleft lip and palate (BCLP), who have not had any surgery. SETTING AND SAMPLING POPULATION: Eighteen patients with BCLA, 13 patients with BCLP, and 24 controls from remote areas of Indonesia collected over 10 years. MATERIALS AND METHODS Dental casts were digitize...
متن کاملHeterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
We have previously shown that familial septo-optic dysplasia (SOD), a syndromic form of congenital hypopituitarism involving optic nerve hypoplasia and agenesis of midline brain structures, is associated with homozygosity for an inactivating mutation in the homeobox gene HESX1/Hesx1 in man and mouse. However, as most SOD/congenital hypopituitarism occurs sporadically, the possible contribution ...
متن کاملSepto-optic Dysplasia
The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...
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ژورنال
عنوان ژورنال: Japanese Journal of Oral and Maxillofacial Surgery
سال: 2010
ISSN: 0021-5163,2186-1579
DOI: 10.5794/jjoms.56.179