Patent Ductus Arteriosus Involving Three Generations— A Case History

Schwartz, Jeffrey; Rabinovitz, Harold; Leibovitz, Arthur; Rosenfeld, Vera; Schindler, Dirk; Stelian, J.; Baumohl, Yehuda; Habot, Beni

doi:10.1177/000331979304400914

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…Anderson, 1954Brown, 1950Char, 1978Davidson, 1993Ekstrom, 1952Ellis, 1932Jewesbury, 1913Johnson, 1960Joyce and O'Toole, 1954Kjrergaard, 1946Kjellberg et al, 1959Lamy and Schweisguth, 1948Lamy et al, 1957Lee et al, 1991Lynch et al, 1965Martin et al, 1986McAleese, 1952Nadas and Fyler, 1972Polani and Campbell, 1960Record and McKeown. 1953Rogers et al, 1992Schwartz et al, 1993Snelling, 1937Starer, 1953Stransky and Ledesma, 1963Taussig, 1960Temple, 1992Walker and Ellis, 1940/1941Walker, 1951Wei et al, 1984Wilkins, 1969 Family…”

Section: Acknowledgmentsmentioning

confidence: 99%

Familial occurrence of patent ductus arteriosus

Sletten

1995

Am. J. Med. Genet.

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We describe 7 relatives with patent ductus arteriosus (PDA) and a slightly unusual facial appearance with prominent midface with nose elongation and flattening of the nasal bridge, wide-set eyes, downturned palpebral fissures, mild ptosis, thickened lips, and apparently slightly low-set ears. Autosomal dominant inheritance is suggested in this family. Other families where affected members have PDA and a similar facial appearance and autosomal dominant inheritance were described previously by Char [1978: BD:OAS XIV (6B):303-305] and Temple [1992: Clin Dysmorphol 1:17-21].

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Section: Acknowledgmentsmentioning

confidence: 99%

Familial occurrence of patent ductus arteriosus

Sletten

1995

Am. J. Med. Genet.

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“…Aside from Char syndrome, which includes extracardiovascular anomalies, a familial, nonsyndromic PDA trait with autosomal dominant inheritance has been described in several families [Rogers et al, 1992;Schwartz et al, 1993;Woods and Sheffield, 1994]. Recent molecular analysis of several moderate-sized families established a locus for nonsyndromic PDA and documented the existence of at least one additional locus with position as yet undetermined.…”

Section: Introductionmentioning

confidence: 99%

Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: A novel heart‐hand syndrome

et al. 1999

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The association between cardiac and limb defects, particularly those affecting the hand, has been well documented by the delineation of several heart-hand syndromes. Based on observations with a three-generation family with seven affected individuals, we describe a novel heart-hand syndrome comprising patent ductus arteriosus, bicuspid aortic valve, 5th metacarpal hypoplasia, and brachydactyly. The inheritance pattern was consistent with autosomal dominance, although X-linked dominance could not be excluded. Penetrance appeared to be complete, but there was variability of the cardiac and hand phenotypes. Because this new syndrome closely resembled Char syndrome (patent ductus arteriosus, 5th finger middle phalangeal hypoplasia, and minor facial anomalies), multipoint linkage analysis was performed using polymorphic DNA markers spanning the recently identified Char syndrome critical region at chromosomal bands 6p12-p21.1. This analysis formally excluded this 3-cM region, documenting that the two traits are not allelic. In sum, a novel heart-hand syndrome involving left ventricular outflow and aortic arch as well as an ulnar ray derivative has been identified. Because the hand anomalies can be subtle, thorough evaluation is suggested for families inheriting these cardiac defects as a mendelian trait.

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