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Holt-Oram syndrome is a malformation syndrome characterized by upper limb abnormalities and heart defects. Affected individuals may present in infancy with obvious limb malformations and/or signs of cardiac failure secondary to cardiac malformations and/or cardiac conduction disease. Although the condition is considered to be fully penetrant, subtle limb involvement may not become clinically apparent without radiographic studies. The spectrum of limb defects ranges from severe (phocomelia) to mild (slight carpal bone abnormalities), the most common limb anomalies being either triphalangeal (finger-like) or absent thumbs. Upper limb deformities are usually bilateral and are frequently asymmetrical. Cardiac abnormalities occur in approximately 75% of patients with HOS (95% of familial cases). The most common cardiac abnormality is an atrial septal defect (ASD) or ventral septal defect (VSD). Strict diagnostic criteria for HOS are met with personal and/or positive family history of cardiac septation and/or conduction defects in combination with preaxial radial ray deformity. Atypical characteristics thought to exclude a diagnosis of HOS include: ulnar or lower limb involvement, renal anomalies, syndactyly involving digits other than the thumb, polydactyly, and craniofacial abnormalities.Prenatal full gene sequence analysis is available when fetal ultrasound abnormalities are suggestive of HOS.
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