American Journal of Medical Genetics 34:614-615 (1989)

Letter to the Editor

Aplasia Cutis Congenita Associated With Congenital Heart Defect, Not a Coincidence?

To the Editor:

The recent article by Kuster et a1 [19881 on congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome) prompts us to mention the following case.

The patient, a girl (Fig. l.), belongs to a family with aplasia cutis congenita: Her maternal grandmother presents with a typical congenital scalp defect; her mother also has a scalp defect and upper and lower limb reductions (Fig. 2). The patient was born with a scalp defect and no distal limb anomalies, but with a congeni- tal heart defect (CHD), i.e., aortic coarctation and ven- tricular septal defect, as shown by angiography.

Aplasia cutis congenita associated with CHD has not been emphasized in the literature. However, our case

was similar to those described by Paltzic and Aiello [19851 (ventricular septal defect and pulmonary sten- osis) and by Kuster et al. [19881 (tetralogy of Fallot).

These three cases make us think that CHD could be a component manifestation of the Adams-Oliver syn- drome, a hypothesis that could be validated by addi- tional similar reports.

Heloisa Santos Isabel Cordeiro Isabel Menezes Unidade de Genetica e Unidade

Cardiologia do ServiCo de Pedi- atria do Hospital de Santa Maria

Lisbon, Portugal

Fig. 1. Scalp defect in the proposita (a) and her mother (b).

bceived for publication December 30, 1988; revision received April 11, 1989.

Address reprint requests to Heloisa Santos, MD, Unidade de Genetica e Unidade Cardiologia do ServiCo de Pediatria do Hospi- tal de Santa Maria, 1699 Lisboa, Codex, Portugal.

0 1989 Alan R. Liss, Inc.

Letter to the Editor 615

Fig. 2. Limb reduction in the proposita’s mother

2. Kuster W, Lenz W, Kaariainen H, Majewski F (1988): Congenital scalp defects with distal limb anomalies (Adams-Oliver Syndrome): Report of ten cases and review of the literature. Am J Med Genet 31:99-115.

REFERENCES 1. Paltzik RL, Aiello AM (1985): Aplasia cutis congenita associated

with valvular heart disease. Cutis 7:57-58.