[HTML][HTML] Disorders of the thyroid gland in infancy, childhood and adolescence

M Segni - Endotext [Internet], 2017 - ncbi.nlm.nih.gov
Thyroid disorders in infancy, childhood and adolescence represent common and usually
treatable endocrine disorders. Thyroid hormones are essential for normal development and …

Absent cavum septum pellucidum: a review with emphasis on associated commissural abnormalities

DK Sundarakumar, SA Farley, CM Smith… - Pediatric …, 2015 - Springer
The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark, and
its absence often signifies additional underlying malformations. Frequently detected by …

Schizencephaly: heterogeneous etiologies in a population of 4 million California births

CJ Curry, EJ Lammer, V Nelson… - American journal of …, 2005 - Wiley Online Library
Schizencephaly is a rare congenital brain defect characterized by gray matter lined clefts of
the cerebral mantle, frequently accompanied by other defects of the CNS such as absence …

Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England

L Patel, RJQ McNally, E Harrison, IC Lloyd… - The Journal of …, 2006 - Elsevier
OBJECTIVE: To study the distribution of septo-optic dysplasia (SOD) and optic nerve
hypoplasia (ONH) in the Greater Manchester and Lancashire (GM&L) region of Northwest …

Congenital hypothyroidism

MA Abduljabbar, AM Afifi - Journal of Pediatric Endocrinology and …, 2012 - degruyter.com
Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth.
Babies with CH who are not identified and treated promptly develop severe mental …

Main congenital cerebral anomalies: how prenatal imaging aids counseling

C Garel, ML Moutard - Fetal diagnosis and therapy, 2014 - karger.com
The purpose of this article is to discuss some common cerebral lesions that may be detected
during prenatal screening: corpus callosum dysgenesis, absent septum pellucidum …

Pediatric outcome of children with the prenatal diagnosis of isolated septal agenesis

L Damaj, B Bruneau, M Ferry, ML Moutard… - Prenatal …, 2010 - Wiley Online Library
Abstract Background Isolated Septal Agenesis (SA) is a rare disease with clinical outcomes
(especially neurological outcomes) that are unknown. The purpose of this study was to …

Congenital optic disc anomalies

MC Brodsky, MC Brodsky - Pediatric neuro-ophthalmology, 2010 - Springer
Congenital anomalies of the optic disc underlie many cases of decreased vision, strabismus,
and nystagmus in childhood. A comprehensive evaluation necessitates an understanding of …

Septo‐optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesis

CA Stevens, WB Dobyns - … Journal of Medical Genetics Part A, 2004 - Wiley Online Library
Septo‐optic dysplasia (SOD) is a heterogeneous disorder. While most cases represent an
isolated defect, SOD has also been seen in association with mutations in single genes, as a …

Does asymptomatic septal agenesis exist? A review of 34 cases

O Belhocine, C André, G Kalifa, C Adamsbaum - Pediatric radiology, 2005 - Springer
Background: Primary septal agenesis (PSA) is a rare brain malformation that can be isolated
or part of developmental brain abnormalities (holoprosencephaly, septo-optic dysplasia or …