Infectious disease H01367 Infantile liver failure Infantile liver failure is a life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity. [kegg.jp]

He required a gastrostomy and PEG for poor feeding. The kidneys were small with evidence of nephrocalcinosis. At the age of 1 year he had mild to moderate developmental delay, height was 1 SD, weight 2.5 SD and head circumference 1.5 SD. [nature.com]

The presented patient adds additional features to the phenotype such as genital malformation, and the clinical course of the condition e pharyngeal instability and feeding difficulties. [kundoc.com]

Minor diagnostic criteria include a characteristic high-pitched voice (96%), hepatomegaly (70%), muscle hypotonia (60%), and cutaneous naevi flammei (65%), lumbar lordosis, very thin ribs, and fibrous dysplasia of long bones (25%) (tibia). [sites.uclouvain.be]

He was noted at birth to be hypotonic and dysmorphic with a large, anterior fontanelle, sacral dimple, anal stenosis and camptodactyly of the fingers with flexion deformities of the PIP joints. [nature.com]

We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism, broad nasal bridge, long philtrum, micrognathia, triangular-shaped [pubfacts.com]

The medical history was further on significant for pharyngeal instability requiring the placement of a tracheostomy tube, an inguinal hernia, hip subluxation, small kidneys and genital abnormalities (micropenis, bifid scrotum, cryptorchidism). [kundoc.com]

At the age of 4 years, he was not able to walk and also there was no speech development. At the clinical evaluation at the age of 4 years and 2 months the length was 96 cm (
2.1 SDS), OFC 48 cm (
2.5 SDS), and weight was 12.7 kg (BMI 13.78). [kundoc.com]

Renal ultrasound demonstrated bilateral small kidneys with large adrenal glands. Patient 5, the fifth child of these parents, was born following an unremarkable pregnancy. [nature.com]

The medical history was further on significant for pharyngeal instability requiring the placement of a tracheostomy tube, an inguinal hernia, hip subluxation, small kidneys and genital abnormalities (micropenis, bifid scrotum, cryptorchidism). [kundoc.com]