Table 1.

Characteristics of the proband and his parents.

Individual	Gender	Age when the study was performed (yrs)	Diagnosis	Clinical features/abnormalities	Telomere length	Genotype
Proband	Male	6	HHS	Intrauterine growth restriction (IUGH) Gastrointestinal complications Necrotizing enterocolitis (NEC) Volvulus (50% of his small intestine was removed) Digestive tract anomalies and eating difficulties (i.e., oesophageal strictures, varices, swallowing difficulties and severe hemorrhages) Neurological complications Microcephaly Cerebellar hypoplasia Atrophy of the vermis cerebelli Cortical malformation Poor myelinization Delayed psychomotor development (i.e., broad gait, mild intellectual disability, no speech) Bone marrow failure and immunodeficiency Thrombocytopenia Erythropenia Recurrent infections Other complications Fibrosis (grade 3 out of 4) and malformation of the liver Dilated intrahepatic choledochus Elevated blood levels of transaminases Retinal abnormalities and vitreous body hemorrhaging Dysmorphic features of the face and body (i.e., strabismus, epicanthal folds, slightly deep-set eyes, dark gray eyes, cup-shaped protruding overfolded ears, depressed nasal tip, fine blond hair, widely spaced teeth, full lips, everted upper lip vermilion, fragile, fast growing nails, short stature and hypotonia) Pale skin	<1st percentile	WRAP53L283F /WRAP53R398W
Father	Male	45	Healthy	None	Not determined	WRAP53WT /WRAP53R398W
Mother	Female	44	Healthy	None	Not determined	WRAP53WT /WRAP53WT