Holt-Oram syndrome revisited. Two patients in the same family

Abstract

Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature

Hand-foot-genital syndrome - analysis of two cases

“…Differential diagnosis includes the Holt-Oram syndrome, with common features such as hand anomalies, but different signs such as the presence of cardiac abnormalities and absence of feet and genitalia anomalies ( Frota Filho et al ., 1999 ; Allanson & Newbury-Ecob, 2003 ).…”

“…Mortlock and Innis identified a HOXA 13 gene mutation as the cause for the disorder in a family diagnosed with HFGS ( Mortlock & Innis, 1997 ). The HOXA 13 mutation has been reported in cases of HFGS and Guttmacher syndrome, two autosomal dominant congenital skeletal and urogenital syndromes ( Frota Filho et al ., 1999 ). Digit anomalies include short thumbs, short metacarpals, and clinodactyly.…”

Atypical Carpal Tunnel Syndrome in a Holt Oram Patient: A Case Report and Literature Review

“…With the majority of literature reporting skeletal upper limb anomalies one must not assume all the soft tissues are normal; muscular deficiencies, nerve anomalies (hypertrophic median nerve) and vascular anomalies have all been associated with radial longitudinal deficiencies [ 2 ]. Frota Filho et al [ 28 ] reported a case of HOS with absent radial and ulnar pulses, but good hand perfusion. In reporting the outcomes of 74 patients undergoing index finger pollicization Lochner et al reported a higher occurrence of physeal arrest in HOS (46%) compared to the entire group (25%); they speculated the vascularity of these digits were at greater risk due to potential aberrant size or location of digital vessels [ 29 ].…”

Holt–Oram syndrome: Hands are the clue to the diagnosis

“…The name was given by Dr. Mary Holt and Dr. Samuel Oram in 1960 in a four-generation family with atrial septal defects (ASDs) and thumb abnormalities. [12] Our patient had bilateral hand deformities along with congenital cardiac defect. Similar hand deformities were present in her child with no cardiac defects.…”