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Adams-Oliver syndrome Autosomal recessive inheritance and new phenotypic-anthropometric findings

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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. [1987]
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. [1992] 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.
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autosomal, syndrome, phenotypic, inheritance, oliver, findings, adam, new, anthropometric, recessive
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