نتایج جستجو برای: hypoplasia
تعداد نتایج: 8829 فیلتر نتایج به سال:
OBJECTIVE To determine whether total fetal lung volumes estimated by MRI could predict lethal pulmonary hypoplasia in a cohort of fetuses with cervical teratomas. METHODS We performed a retrospective cohort study of fetal cervical teratomas from January 1, 2005, through April 1, 2012. The primary outcome was the ability of total lung volumes measured by MRI to predict neonatal mortality speci...
BACKGROUND Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that are secondary to mutations in the PORCN gene. To our knowledge, only 5 cases of focal dermal hypoplasia with unilateral presentation have been reported, and molecular studies were not performed in ...
Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit gene...
BACKGROUND Congenital hypothyroidism is often secondary to thyroid dysgenesis, including thyroid agenesis, hypoplasia, ectopic thyroid tissue or cysts. Loss of function mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes are responsible for some forms of inherited congenital hypothyroidism, with or without hypoplastic thyroid. The aim of this study was to analyse the PAX8 gene sequence in s...
This presentation discusses an updated classification of thumb hypoplasia which allows greater relevance of comparison of surgical results; advises upon the indications for specific surgical techniques; presents some detail of many but not all surgical techniques; and discusses methods of assessment of outcomes following surgery. The Blauth classification of hypoplastic grades 1-5 is based on t...
A case of huge occipital myxomatous plexiform neurofibroma is presented. The lesion slowly enlarged since childhood and was associated with suboccipital bone hypoplasia. At operation the lesion was clearly originating from the occipital nerve and was totally excised. The case represents a rare occurrence of occipital myxomatous plexiform neurofibroma and suboccipital bone hypoplasia in the abse...
Introduction: Congenital clasped thumb refers to spectrum of thumb anomalies with diversity of very mild cases with deficiency in extensor mechanism to severe abnormality in soft tissue and thenar muscles. Hypoplasia and absence of extensor pollicis brevis are usual and the patient is unable to extend the metacarpophalangeal joint of thumb. Case Report: The present patient is a 12-year-old...
Optic nerve hypoplasia with hypopituitarism and intact septum pellucidum is a variant of septo-optic dysplasia or deMorsier's syndrome.' Although neonatal jaundice has been seen with this syndrome, the association with severe prolonged cholestatic jaundice has not been emphasised. We describe three patients who presented with cholestatic jaundice and were found to have optic nerve hypoplasia an...
The Gulf Journal of Dermatology and Venereology ABSTRACT Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. We present an infant with focal dermal hypoplasia who, besides having a constellation of anomalies commonly encountered in patients with this syndrome, manifested additional unusual feature...
Association of unilateral severe pulmonary hypoplasia or agenesis and esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is an exceedingly rare and highly lethal combination. We report a case of full term male baby who had EA with TEF and right lung hypoplasia, managed at our centre. He is alive and doing well at 10 years of age.
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