American Journal of Medical Genetics 43:900-901 (1992)

Letter to the Editor

Congenital Heart Defect in a Japanese Girl With Adams-Oliver Syndrome: One of the Most Important Complications

To the Editor: We read with interest the recent articles by David et

al. [19911 and by Santos et al. 119891 on congenital heart defect (CHD) in Adams-Oliver syndrome (AO). We have another case associated with CHD.

The patient, a Japanese girl, was born at 41 weeks of gestation after an uneventful pregnancy with a birth weight of 2,480 g to a healthy, G2AlPO mother and a healthy, unrelated father. Both of the parents were 23 years old at her birth. A scalp defect, a skull defect, limb anomalies, cyanosis, and heart murmurs were noticed immediately after her birth. The scalp defect was lo- cated on the paries, and the size was 3.1 x 3.2 cm. The defective area was covered with eschars (Fig. 1). Almost the same size of a skull defect was present under the scalp defect. Dermoplasty was performed at age 24 days. She had tapering fingers and toes with hypoplastic or aplastic nails (Fig. 2). Echocardiography showed tetral- ogy of Fallot (TOF) with pulmonary atresia. Her chrom- osomes were apparently normal (46,XX).

This is the eighth case associated with CHD [Palzik and Aiello, 1985; Sybert 1985; Toriello et al., 1988; Kus- ter et al., 1988; Santos et al., 1989; David et al., 1991;

Fig. 2. (A) Hands and (B) feet.

Der Kaloustian et al., 19911. CHD is one of the most important and serious anomalies in AO. Four of the 8 patients with CHD had ventricular septa1 defect (VSD), and 3 had TOF. VSD might be a prevailing type of CHD in AO, including TOF.

REFERENCES David A, Roz6 JC, Melon-David V (1991): Adams-Oliver syndrome

associated with congenital heart defect: Not a coincidence. Am J Med Genet 40:126-127.

Der Kaloustian VM, Hoyme HE, Hogg H, Entin MA, Guttmacher AE (1991): Possible common pathogenetic mechanisms for Poland se- quence and Adams-Oliver syndrome. Am J Med Genet 38:69-73.

Kuster W, Lenz W, Kaariainen H, Majewski F (1988): Congenital scalp

Fig. 1. Parietal scalp defect.

Received for publication September 9, 1991. Address reprint requests to Satoshi Ishikiriyama, M.D., Divi-

sion of Medical Genetics, Chiba Children’s Hospital, 579-1 Hetachou, Chiba 280-02, Japan .

0 1992 Wiley-Liss, Inc.

Ishikiriyama et al. 901

defect with distal limb anomalies (Adams-Oliver syndrome): Report of ten cases and review of the literature. Am J Med Genet 31:99- 115.

Palzik RM, Aiello AM (1985): Aplasia cutis congenita associated with valvular heart disease. Cutis 7:57-58.

Santos H, Cordeiro I, Menezes I(1989): Aplasia cutis congenita associ- ated with congenital heart defect, not a coincidence? Am J Med Genet 345144515,

Sybert VP (1985): Aplasia cutis congenita: A report of 12 families and review of the literature. Pediatr Dermatol 3:l-14.

Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD (1988):

Scalp and limb defects with cutis marmorata telangiectatica con- genita: Adams-Oliver syndrome? Am J Med Genet 29:269-276.

Satoshi Ishikiriyama Bunsho Kaou Akikazu Udagawa Koichiro Niwa Chiba Children’s Hospital Chiba, Japan