Primary Pulmonary Hypertension, Congenital Heart Disease and Skeletal Anomalies in Three Generations

A girl with severe expression of the Holt‐Oram gene

“…The most gross defect of the upper limb to be described is phocomelia. According to one's definition of this admittedly imprecise term (O'Rahilly 1969) this has been reported in some nine cases (Kuhn et al 1963, Pruzanski 1964, Lewis et al 1965, Murdoch 1969, Lenz 1971, Rybak et al 1971. Hypoplastic scapulae were noted in some.…”

Holt‐Oram syndrome: penetrance of the gene and lack of maternal effect

“…An obligate carrier for the Holt-Oram gene was defined as an individual with an affected parent or grandparent and one affected child or an individual with at least two affected children. Forty-four obligate carriers were found, including D.W. described in this report (Holt & Oram 1960, Kuhn et al 1963, Pruzanski 1964, Holms 1965, Lewis et al 1965, Gall et al 1966, Massumi & Nutter 1966, Chung 1967, Sanchez-Cascos 1967, Ashby et al 1969, Mark 1969, Pernot et al 1970, Rybak et al 1971, Kaufman et al 1974, Walter et al 1974and Letts et al 1976.…”

“…We were able to find 71 probands with the Holt-Oram syndrome reported in the literature (including our own). For 25 of these, additional pedigree information on 124 individuals with the Holt-Oram syndrome was available (Holt & Oram 1960, Mc-Kusick 1961, Kuhn et al 1963, Zetterqvist 1963, Pruzanski 1964, Holms 1965, Lewis et al 1965, Gall et al 1966, Massumi & Nutter 1966, Chung 1967, Sanchez-Cascos 1967, Ashby et al 1969, Mark 1969, Pernot et al 1970, Rybak 1971, Kaufman et al 1974, Walter et al 1974 al. 1976).…”

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

“…Pulmonary arterial hypertension may occur in a significant number of patients and is generally a result of the excessive pulmonary flow caused by the atrial septal defect, as shown in both patients. However, this hypertension may also occur as primary pulmonary arterial hypertension 11 .…”