Adams-Oliver Syndrome

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In 1945, Adams and Oliver described congenital transverse limb defects associated with aplasia cutis congenita in a three- generation kindred with typical autosomal dominant inheritance and intrafamilial variable expressivity.

GENETICS/BASIC DEFECTS

1. Genetic heterogeneity

a. Autosomal dominant in most cases b. Autosomal recessive in some cases 2. Pathogenesis

a. Trauma

b. Uterine compression c. Amniotic band sequelae d. Vascular disruption sequence

i. Concomitant occurrence of Poland sequence ii. Both Poland sequence and Adams-Oliver syn-

drome: secondary to vascular disruption due to thrombosis of subclavian and vertebral arteries e. Massive thrombus from the placenta occluding the

brachial artery

f. Abnormalities in small vessel structures manifesting during embryogenesis

g. A developmental disorder of morphogenesis

CLINICAL FEATURES

1. Marked intrafamilial and interfamilial variability 2. Terminal transverse limb defects

a. Most common manifestation (84%) b. Usually asymmetrical

c. Tendency toward bilateral lower limb rather than upper limb involvement

d. Mild spectrum of defects i. Nail hypoplasia ii. Cutaneous syndactyly iii. Bony syndactyly

iv. Ectrodactyly v. Brachydactyly

e. Severe spectrum of transverse defects i. Absence of the hand

ii. Absence of the foot iii. Absence of the limb 3. Aplasia cutis congenita

a. Second most common defect (almost 75%) b. Associated with skull defect (64%)

i. Small lesion: 0.5 cm in diameter

ii. Intermediate lesion: 8–10 cm involving the vertex iii. Severe lesion: involves most of the scalp with

acrania

c. Skull defect without scalp defect, often mistaken for an enlarged fontanelle

d. May involve other areas of the body e. Severe end of the spectrum of scalp defects

i. Encephalocele ii. Acrania

4. Congenital cardiovascular malformations (13.4–20%) a. Mechanisms proposed to explain the pathogenesis of

congenital cardiovascular malformations

i. Alteration of mesenchymal cell migration resulting in conotruncal malformations; e.g., tetralogy of Fallot, double outlet right ventricle, and trun- cus arteriosus

ii. Alteration of fetal cardiac hemodynamics resulting in different malformations such as coarctation of the aorta, aortic stenosis, perimembranous VSD, and hypoplastic left heart

iii. Persistence of normal fetal vascular channels resulting in postnatal vascular abnormalities b. Diverse vascular and valvular abnormalities

i. Bicuspid aortic valve ii. Pulmonary atresia iii. Parachute mitral valve

iv. Pulmonary hypertension 5. Other associated anomalies

a. Cutis marmorata telangiectasia congenita (12%) b. Dilated and tortuous scalp veins (11%)

c. Poland anomaly d. Encephalocele e. Facial features

i. Hemihypoplasia ii. Hypertelorism iii. Epicanthal folds

iv. Microphthalmia v. Esotropia vi. High arch palate vii. Cleft palate f. Cryptorchidism

g. Lymphatic abnormalities i. Lymphedema of the leg ii. Chylothorax

iii. Dilated pulmonary lymphatics iv. Intestinal lymphangiectasia

v. Marmorata telangiectasia congenita (a cutaneous vascular abnormality)

h. CNS abnormalities: unusual manifestation i. Mental retardation

ii. Learning disability iii. Epilepsy

i. Short stature j. Renal malformations k. Spina bifida occulta

l. Accessory nipples

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Adams-Oliver Syndrome

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24 ADAMS-OLIVER SYNDROME

DIAGNOSTIC INVESTIGATIONS

1. Radiography

a. Transverse limb defects b. Ectrodactyly

c. Brachydactyly d. Syndactyly e. Nail hypoplasia

f. Skull defect

2. CT scan or MRI of the brain a. Polymicrogyria

b. Ventriculomegaly

c. Irregular cortical thickening d. Cerebral cortex dysplasia e. Microcephaly

f. Arhinencephaly

g. Periventricular and parenchymal calcium deposits

GENETIC COUNSELING

1. Recurrence risk a. Patient’s sib

i. Autosomal dominant: not increased unless a par- ent is affected in which case the risk is 50%

ii. Autosomal recessive: 25%

b. Patient’s offspring

i. Autosomal dominant: 50%

ii. Autosomal recessive: not increased unless the spouse carries the gene or is affected

2. Prenatal diagnosis by ultrasonography a. Transverse limb defects

b. Concomitant skull defect 3. Management

a. Treat minor scalp lesions with daily cleansing of the involved areas with applications of antibiotic oint- ment

b. Surgically close larger lesions and exposed dura with minor or major skin grafting procedure (split-thickness or full-thickness)

c. Prevent sepsis and/or meningitis from an open scalp lesion which is highly vascular and rarely involves the sagittal sinus predisposing to episodes of spontaneous hemorrhage

d. Orthopedic care for various degrees of limb defects

REFERENCES

Adams FH, Oliver CP: Hereditary deformities in man due to arrested develop- ment. J Hered 36:3–7, 1945.

Arand AG, et al.: Congenital scalp defects: Adams-Oliver syndrome. A case report and review of the literature. Pediatr Neurosurg 17:203–207, 1991.

Bamforth JS, Kaurah P, Byrne J, et al.: Adams Oliver syndrome: a family with extreme variability in clinical expression. Am J Med Genet 49: 393–396, 1994.

Becker R, Kunze J, Horn D, et al.: Autosomal recessive type of Adams-Oliver syndrome: prenatal diagnosis. Ultrasound Obstet Gynecol 20:506–-510, 2002.

Bonafede RP, Beighton P: Autosomal dominant inheritance of scalp defects with ectrodactyly. Am J Med Genet 3:35–41, 1979.

Bork K, Pfeifle J: Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome. Br J Dermatol 127:160–163, 1992.

Burton BK, Hauser H, Nadler HL: Congenital scalp defects with distal limb anomalies: report of a family. J Med Genet 13:466–468, 1976.

Frieden I: Aplasia cutis congenita: a clinical review and proposal for classifica- tion. J Am Acad Dermatol 14:646–660, 1986.

Fryns JP: Congenital scalp defects with distal limb reduction anomalies. J Med Genet 24:493–496, 1987.

Fryns JP, Leigius E, Demaere P, et al.: Congenital scalp defects, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arterial cerebri media. Clin Genet 50:505–509, 1996.

Hoyme HE, Der Kaloustian VM, Entin M, et al.: Possible common patho- genetic mechanisms for Poland sequence and Adams-Oliver syndrome:

an additional clinical observation. Am J Med Genet 42:398–399, 1992.

Klinger G, Merlob P: Adams-Oliver syndrome: autosomal recessive inheritance and new phenotypic-anthropometric findings. Am J Med Genet 79:197–199, 1998.

Koiffmann CP, Wajntal A, Huyke BJ, et al.: Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome—McKusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet 29:263–268, 1988.

Küster W, Lenz W, Kaariainen H, et al.: 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, 1988.

Lin AE, Wesgate MN, van der Velde ME, et al.: Adams-Oliver syndrome associated with cardiovascular malformation. Clin Dysmorphol 7:235–241, 1998.

Mempel M, Abeck D, Lange I, et al.: The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases. Br J Dermatol 140:1157–

1160, 1999.

Pauli RM, et al.: Familial recurrence of terminal transverse defects of the arm.

Clin Genet 27:555–563, 1985.

Pereira-da-Silva L, Leal F, Cassiano Santos G, et al.: Clinical evidence of vascular abnormalities at birth in Adams-Oliver syndrome: report of two further cases. (Letter) Am J Med Genet 94:75–76, 2000.

Pousti TJ, Bartlett RA: Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia. Plast Reconstr Surg 100:1491–1496, 1997.

Shapiro SD, Escobedo MK: Terminal transverse defects with aplasia cutis congenita (Adams-Oliver syndrome). Birth Defects Orig Artic Ser 21(2):135–142, 1985.

Stevenson RE, Deloache WR: Aplasia cutis congenita of the scalp. Proc Greenwood Genet Center 7:14–18, 1988.

Sybert VP: Congenital scalp defects with distal limb anomalies (Adams-Oliver Syndrome—McKusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet 32:266–-267, 1989.

Tekin M, Bodurtha J, Çiftçi E, et al.: Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome. (Letter) Am J Med Genet 86:90–91, 1999.

Toriello HV, Graff RG, Florentine MF, et al.: Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?. Am J Med Genet 29:269–276, 1988.

Verdyck P, Holder-Espinasse M, Hul WV, et al.: Clinical and molecular analy- sis of nine families with Adams-Oliver syndrome. Eur J Hum Genet 11:457–463, 2003.

Whitley CB, Gorlin RJ: Adams-Oliver syndrome revisited. Am J Med Genet 40:319–326, 1991.

Zapata HH, Sletten LJ, Pierpont MEM: Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet 47:80–84, 1995.

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ADAMS-OLIVER SYNDROME 25

Fig. 1. A 9-month-old boy with Adams-Oliver syndrome showing alopecia, absent eyebrows and eyelashes, scalp defect, tortuous scalp veins, and limb defects (brachydactyly, syndactyly, broad great toes, and nail hypoplasia). Radiography showed absent middle and distal phalanges of 2nd–5th toes and absent distal phalanges of the great toes.