Phenotype #0000337244

Individual ID	00448055
Associated disease	?
Diagnosis/Initial	connective tissue disorder
Diagnosis/Definite	BCARD
Phenotype details	see paper; ..., pregnancy intrauterine growth retardation; birth 40w, weight 1.95 Kg (<0.3rd centile), length (<0.3rd centile), OFC (<0.3rd centile); shallow orbits, small nose, downturned corners mouth, low-set ears, flat facial profile; 5m-right-sided diaphragmatic eventration repaired; bilateral talipes equinovarus requiring surgical correction, flexion contractures proximal interphalangeal joints first/second/third fingers; prominent knee joints; 7y-scoliosis, no underlying vertebral malformations; platyspondyly with inferior beaking second lumbar vertebra, small capital femoral epiphyses, J-shaped sella turcica, small odontoid; osteopenia, healed fractures left clavicle, right femur, and right humerus; poor skeletal muscle bulk; profound bilateral sensorineural deafnesstreated with cochlear implantation; shallow anterior chambers, flat retinae, 7y-cataract surgery; skin creases on both palms, blistering all toes/fingers, blistering pinnae
Inheritance	Familial, autosomal recessive
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-13 14:17:56 +01:00 (CET)
Date last edited	N/A