Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families’ presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder.
Abstract:Pyloric atresia is a rare condition, comprising less than 1% of all intestinal atresias, with a reported incidence of 1/1,00,000 newborns [1][2][3]. The usual presenting symptoms include non-bilious vomiting and abdominal distension [3][4][5]. Delay in diagnosis may occur since the non-bilious vomiting may be attributed mistakenly to gastroesophageal reflux. Complications resulting from such delays include aspiration pneumonia, recurrent lung infections, septicemia, severe metabolic derangements, and gastric perforation [1,2,6]. Here we present a 6-day-old female with pyloric atresia who presented with severe dehydration, hypotension, electrolyte abnormalities, and metabolic acidosis. After clinical stabilization and correction of biochemical abnormalities, the patient underwent surgical correction and had a smooth post-operative course. Currently she is 2 years and 3 months old, and has reached her expected developmental milestones.
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