HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Rare hereditary syndrome with varying degrees of aplasia cutis circumscripta of the scalp, underlying bony cranial defect, variable severity of ectodactyly and vascular malformations of varying expressiveness.
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EtiopathogenesisThis section has been translated automatically.
Heterogeneous, both autosomal dominant inheritance with variable expressivity and reduced penetrance and autosomal recessive inheritance are described. Mutations in the NOTCH1 gene and the DOCK6 gene were detected.
Clinical featuresThis section has been translated automatically.
Scalp defects (Aplasia cutis circumscripta), bony cranial defects, dysmelia, syndactyly, cutis marmorata teleangiectatica congenita, cardiac vitae,
were also observed:
- localized (scarred) alopecia (probably as a result of aplasia cutis)
- accessory nipples
- Malformation of the optic nerve and the optic papilla of the optic nerve
- small or missing finger- and toenails
LiteratureThis section has been translated automatically.
- Adams H, Oliver CP (1945) Hereditary deformities in man to arrested development. J Hered 36: 3-8
- Bamforth JS, Kaurah P et al (1994) Adams-Oliver syndrome: a family with extreme variability in clinical expression. At J Med Genet 49: 393-396
- Beekmans SJ et al (2001) Surgical treatment of aplasia cutis in the Adams-Oliver syndrome. J Craniofac Surgery 12: 569-572
- Becker R et al (2002) Autosomal recessive type of Adams Oliver syndrome: prenatal diagnosis. Ultrasound Obstetric Gynecol 20: 506-510
Lehman A et al(2014) Diffuse angiopathy in Adams Oliver syndrome associated with truncating DOCK6 mutations. At J Med Genet 164:2656-1662
Mempel M et al (1999) The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases. Br J Dermatol 140: 1157-1160
Stittrich AB et al (2014) Mutations in NOTCH1 Cause Adams-Oliver Syndrome. On J Hum Genet 95:275-284
- Toriello HV, Graff RG, Florentine MF et al (1988) Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? At J Med Genet 29: 269-276
- Unay B et al (2001) Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. Clin Dysmorphol 10: 223-225
Incoming links (6)Absence defects of limbs; Aplasia cutis congenita (overview); Aplasia cutis congenita with terminal transverse defects of limbs; Cutis marmorata teleangiectatica congenita; Scalp and skull; Scalp defects with ectrodactyly;
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