Phenotype #0000308725

Individual ID	00417210
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	familial exudative vitreoretinopathy with multiple abnormalities: growth retardation, facial anomalies, cleft palate, and minor digital anomalies
Phenotype details	37-week gestation complicated by intrauterine growth retardation; birth weight: 1.95 kg, 3rd centile; birth length and head circumference: between the 10th and 25th centiles; postnatal growth: extremely poor, resulting in severe failure to thrive, short stature, and marked microcephaly; bilateral exudative vitreoretinopathy; clefting of the secondary palate; mild facial dysmorphism including a broad forehead, microganathia, upslanting palpebral fissures, long eyelashes, and slightly anteverted nares; skeletal and minor limb anomalies: arachnodactyly of the fingers and toes, digitalized thumbs, polysyndactyly of the right 5th toe, transverse palmar creases, pectus carinatum, and a non-communicating sacral dimple/sinus; other physical anomalies: an anteriorly placed anus, labial fusion at the posterior fourchette; severe global developmental delay and hypotonia; magnetic resonance imaging of the brain: normal; 1y9m: electroencephalogram: mild to moderate generalized slowing without epileptiform abnormalities; echocardiogram of the heart: normal; significant gastroesophageal reflux which caused several episodes of aspiration pneumonia; 3y2m: developed purpuric papules on the limbs following a mildly febrile upper respiratory infection, soon showed signs of pneumonia and pulmonary edema which quickly progressed to respiratory failure; skin biopsy of the lesions showed leukocytoclastic vasculitis without evidence of microorganisms or embolizations; extensive examination did not reveal any infectious or thromboembolic cause of the vasculitis - treated with steroids, to which she responded well, and weaned off mechanical ventilation and eventually discharged, during a slow steroid taper, the vasculitis recurred after another mild fever, and the patient died of respiratory failure due to pulmonary edema and hemorrhage at 3y4m; neither parents had EVR on formal ophthalmologic evaluation; however, the mother had non-specific retinal pigmentary alterations (no intravenous fluorescein angiography) heterozygous for two nucleotide changes, c.97C > T (P33S, CCG to TCG) and c.502C > T in FZD4 which the proband did not inherit
Inheritance	Isolated (sporadic)
Age/Examination	3y4m (3 years, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-14 10:30:26 +02:00 (CEST)
Date last edited	N/A