Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Further delineation of a new genetic syndrome

Abstract

The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents. Here we report on four new patients with their follow-up data, as well as on one of the four cases from the original report. Comparison of all eight cases indicates that they share 50% of clinical and radiological changes. This report contributes to the further delineation of this newly recognized syndrome.

Autosomal dominant inheritance in Cant� syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly)

“…The clinical and radiologic data of the present cases are consistent with the features described by Cantú et al [1982] for a new congenital hypertrichosis syndrome. Since then, the cases of eleven more patients have been reported [Nevin et al, 1996; Concolino et al, 1997; García‐Cruz et al, 1997; Rosser et al, 1998; Robertson et al, 1999]. Since García‐Cruz [1993] reviewed the syndrome, no additional new signs have been reported.…”

“… a 1 = Cantú et al, 1982; 2 = Nevin et al, 1996; 3 = García‐Cruz et al, 1997; 4 = Concolino et al, 1997; 5 = Rosser et al, 1998; 6 = Robertson et al, 1999. …”

Cantu syndrome: A longitudinal review of vascular findings in three individuals

“…Cardiovascular pathology is commonly reported in individuals with Cantu syndrome and can include cardiomegaly typically with normal cardiac function, PDA often requiring surgical ligation, pericardial effusion, pulmonary hypertension, and congenital heart defects (Cantu, Garcia-Cruz, Sanchez-Corona, Hernandez, & Nazara, 1982;Czeschik et al, 2013;Garcia-Cruz et al, 1997;Grange, Lorch, Cole, & Singh, 2006;Harakalova et al, 2012;Levin et al, 2016;Roessler, Volker-Touw, Terhal, van Haaften, & van Haelst, 2018;Scurr et al, 2011;van Bon et al, 2012). Vascular abnormalities have also been reported.…”

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

“…Nineteen cases of Cantu syndrome have been reported in the literature [Cantu et al, 1982; Nevin et al, 1996; Garcia‐Cruz et al, 1997; Rosser et al, 1998; Robertson et al, 1999; Concolino et al, 2000; Lazalde et al, 2000; Engels et al, 2002]. Consanguinity [Cantu et al, 1982; Rosser et al, 1998] and sibling recurrence [Cantu et al, 1982] led to the initial hypothesis that Cantu syndrome was inherited in an autosomal recessive manner.…”