The patient also presents with ventricular and atrial septal defects, hypoplastic mitral valve, persistent left superior vena cava, accessory spleen, and club foot. [ncbi.nlm.nih.gov]

Barium meal showed dilated stomach with delayed gastric emptying. Exploration demonstrated dilated stomach with no intrinsic or extrinsic mechanical obstruction at the pylorus. Heineke-Mikulicz pyloroplasty was curative. [ncbi.nlm.nih.gov]

We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), congenital adrenal hypoplasia, aniridia, dysmorphic facial features, intrauterine growth retardation, and minor skeletal [ncbi.nlm.nih.gov]

Osteochondrosis of the primary ossification centre of the patella (Köhler's disease) has been reported as a rare cause of anterior knee pain in children between 5 and 9 years of age. The aetiology remains unclear. [ncbi.nlm.nih.gov]

A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. [ncbi.nlm.nih.gov]

We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. [ncbi.nlm.nih.gov]