Adams-Oliver syndrome Autosomal recessive inheritance and new phenotypic-anthropometric findingsкод для вставкиСкачать
American Journal of Medical Genetics 79:197–199 (1998) Brief Clinical Report Adams-Oliver Syndrome: Autosomal Recessive Inheritance and New Phenotypic-Anthropometric Findings Gil Klinger1,2 and Paul Merlob1,2* 1 Department of Neonatology, Rabin Medical Center and Schneider Children’s Medical Center of Israel, Petah Tiqva, Israel 2 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel We describe a new family with AdamsOliver syndrome. One sib had scalp aplasia cutis congenita (SACC) and cutis marmorata and a second sib had SACC, cutis marmorata, and terminal lower limb defects. In both the findings were associated with oligohydramnios. The pedigree suggests autosomal recessive inheritance. New phenotypic-anthropometric findings in one infant were upper limb micromelia and brachypodia. Am. J. Med. Genet. 79:197–199, 1998. © 1998 Wiley-Liss, Inc. KEY WORDS: A d a m s - O l i v e r s y n d r o m e ; scalp aplasia cutis congenita; autosomal recessive; oligohydramnios; brachypodia; micromelia INTRODUCTION Adams-Oliver syndrome (McKusick 10030) is characterized by the presence of scalp aplasia cutis congenita (SACC) with distal limb anomalies [Adams and Oliver, 1945]. Cutis marmorata and dilated scalp veins are additional frequent manifestations of the condition [Küster et al., 1988; Whitly and Gorlin, 1991; Zapata et al., 1995]. We present a family with Adams-Oliver syndrome and describe some new phenotypic-anthropometric findings. CLINICAL REPORT The proposita (III-4; Fig. 1) was the fourth child of a 25-year-old mother, gravida 3 para 4, and a 34-year-old *Correspondence to: Prof. P. Merlob, Head, Department of Neonatology, Rabin Medical Center, Beilinson Campus, Petah Tiqva 49100, Israel. Received 3 December 1997; Accepted 15 June 1998 © 1998 Wiley-Liss, Inc. father. Both parents are healthy, nonconsanguineous, and of Iranian origin. There are no known illnesses in their families. The first pregnancy was complicated by oligohydramnios and resulted in the birth of a boy (III1; Fig. 1) with SACC and cutis marmorata. The second pregnancy resulted in the birth of healthy twins. In the third pregnancy (the proposita) there was oligohydramnios diagnosed by ultrasound, which also demonstrated dolicocephaly. There was no history of use of medications, X-ray exposure, alcohol intake, drug use, or smoking during this pregnancy. The preterm infant was born at 36 weeks of gestation and delivered by cesarean section because of previous cesarean section and breech presentation. At birth, there was almost complete absence of amniotic fluid. Apgar scores were 9 and 10 at 1 and 5 min, respectively. Birth weight was 2,370 g, length 47.5 cm, and head circumference 32.5 cm, all appropriate for gestational age. The head was dolicocephalic with high forehead, large fontanels, large third fontanel, and open saggital suture. There was a hairless area 10 × 2 cm in the right paramedian frontoparietal region (Fig. 2). The underlying skin was thin and yellowish, but no bone defects were found by palpation. Dilated veins covered the scalp defect. Other findings were sparse frontal hair; incomplete whorl but normal clockwise rotation; normal eyes, ears, nose; high arched palate; left double nipple; small umbilical hernia; and pilonidal dimple with hair. The upper limbs were normal, but there was bilateral brachydactyly of toes II to IV (Fig. 3), mild cutaneous syndactyly of toes II and III, small toenails, and mild bilateral pes valgus. Generalized cutis marmorata was noted (Fig. 4). Anthropometric measurements documented a small biparietal diameter (below −2 SD) [Merlob et al., 1984], with a large anteroposterior diameter (above +2 SD); both measurements were the result of the dolicocephalic shape of the head. Total arm length (17 cm) was consistent with upper limb micromelia (below −2 SD), and total leg length (17 cm) was normal, but foot length (6.3 cm) showed brachypodia (below −2 SD). 198 Klinger and Merlob Fig. 1. Pedigree of family with Adams-Oliver syndrome. Arrow marks proposita, shading marks affected person. Results of routine laboratory investigations (complete blood count, blood chemistry, and urinalysis) were normal. Skeletal survey did not show any asymmetry and was normal except for the skull film, which was consistent with dolicocephaly. Brain ultrasound was normal. Karyotype was normal (46,XX). Follow-up examination of the proposita (III-4; Fig. 1) at age 6 confirmed presence of SACC, brachypodia, bilateral brachydactyly of the second to fourth toes, and dolicocephaly. Follow-up examination of the older brother (III-1; Fig. 1) at age 8 showed SACC, but no other abnormalities. The cutis marmorata, noted at birth, had resolved by age 2 years in both sibs (III-1 and III-4; Fig. 1). Since the proposita’s first examination two additional children were born. All children are at the normal neurodevelopmental stage for age and all relatives have normal intelligence. Physical examination of both parents, including thorough examination of the skull, was normal with no evidence of SACC or limb defects. DISCUSSION Adams-Oliver syndrome is diagnosed when SACC and distal limb anomalies are present concomitantly. The scalp defect, which is situated at the vertex, may be subtle or in rare cases extensive, with a large defect in the cranium and the underlying vessels. Other defects that have been rarely associated with AdamsOliver syndrome are: congenital heart disease, supernumerary nipples, cryptorchidism, microphthalmia, aplasia cutis congenita at the knee, woolly hair, cleft Fig. 2. Scalp, showing cutis aplasia congenita. Fig. 3. Brachydactyly of toes. lip, and duplicated collecting system [Whitly and Gorlin, 1991]. In almost all reported patients with Adams-Oliver syndrome the inheritance was autosomal dominant [Küster et al, 1988; Whitly and Gorlin, 1991]. Autosomal dominant inheritance with incomplete penetrance was reported in at least six families [Adams and Oliver, 1945; Scribanu and Temtamy, 1975; Burton et al., 1976; McMurray et al., 1977; Bonafede and Beighton, 1979; Hidalgo et al., 1983). Only two reports suggested autosomal recessive inheritance [Kahn and Olmedo, 1950; Koifman et al., 1987]: Both these families were characterized by multiple affected offspring of unaffected parents. In the report by Koifman et al.  parental consanguinity provided additional support for autosomal recessive inheritance. The pathogenesis of aplasia cutis congenita is still unclear today. In their review, Blunt et al.  suggest that vascular disruption is a common mechanism causing this phenomenon. An alternate mechanism may be compression caused by oligohydramnios. In the family described, mild to moderate oligohydramnios Fig. 4. Generalized cutis marmorata. Adams-Oliver Syndrome was present in one and severe oligohydramnios was present in a second sib. Oligohydramnios seems an unlikely cause of SACC in one sib because it was not of sufficient severity. In both sibs SACC was not an isolated finding, and additional manifestations of AdamsOliver syndrome were present, thus providing evidence against oligohydramnios being the primary cause. We present a third family with probable autosomal recessive inheritance in which two sibs had signs of Adams-Oliver syndrome, but the parents did not. One child had scalp cutis aplasia and cutis marmorata and the other had the same anomalies and terminal limb defects. We cannot rule out the possibility of autosomal dominant inheritance with incomplete penetrance in this family. However, the lack of even subtle evidence of this syndrome in the parents or other relatives argues against this form of inheritance. Anthropometric measurements demonstrated upper limb micromelia and brachypodia. The lower limb length was within the normal range. Small biparietal diameter and large anteroposterior diameter consistent with dolicocephaly were also found. These anthropometric findings have not been reported previously. Follow-up examination of the family reaffirmed that normal intelligence is to be expected in this syndrome. Cutis marmorata observed at birth resolved within the first two years of life. Another observation not previously reported in association with Adams-Oliver syndrome is oligohydramnios with normal renal function after birth. 199 REFERENCES Adams FH, Oliver CI (1945): Hereditary deformities in man due to arrested development. J Hered 36:3–7. Blunt K, Quan V, Carr D, Paes BA (1992): Aplasia cutis congenita: A clinical review and associated defects. Neonatal Netw 11:17–27. Bonafede RP, Beighton P (1979): Autosomal dominant inheritance of scalp defects with ectrodactyly. Am J Med Genet 3:35–41. Burton BK, Hauser L, Nadler HL (1976): Congenital scalp defects with distal limb anomalies: Report of a family. J Med Genet 14:466–468. Hidalgo JE, Greer DM, Johnston DW (1983): Congenital scalp defect with distal limb anomalies: Brachydactyly and hypoplastic toes. Plast Reconstr Surg 72:708–711. Kahn EA, Olmedo L (1950): Congenital defect of the scalp with a note on the closure of scalp defects in general. Plast Reconstr Surg 6:435–440. Koifman CP, Wajntal A, Huyke BJ, Castro RM (1987): Congenital skull defects with distal limb anomalies (Adams-Oliver syndrome McKusick 10030): Further suggestion of autosomal recessive inheritance. Am J Med Genet 29:263–68. Küster W, Lenz W, Kääriäinen 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. McMurray BR, Martin LW, Dignan PStJ, Fogelson MH (1977): Hereditary aplasia cutis congenita and associated defects. Clin Pediatr (Phila) 16: 610–614. Merlob P, Sivan Y, Reissner SH (1984): Anthropometric measurements of the newborn infant (27 to 41 gestational weeks): Birth Defects 20:1–51. Scribanu N, Temtamy SA (1975): The syndrome of aplasia cutis congenita with terminal transverse defects of limbs. J Pediatr 87:79–92. Whitly CB, Gorlin JG (1991): Adams-Oliver syndrome revisited. Am J Med Genet 40:319–326. Zapata HH, Sletten LJ, Pierpont ME (1995): Congenital cardiac malformations in Adams Oliver syndrome. Clin Genet 47:80–84.