Adams Oliver syndrome with evidence of periventricular calcifications on brain CT-scan
Abstract
Adams Oliver syndrome is a very a rare genetic disorder with some of its manifestations commonly attributed to congenital infection or administration of medications during pregnancy. Adams Oliver syndrome should be considered patients with terminal transverse limb deficiencies and scalp defects. Limb defect is typically bilateral and asymmetrical. The syndrome can also be associated cardiovascular system such as obstructive lesions of the left heart which includes aortic stenosis. Lin et al emphasize that about 20% of patients with Adams Oliver syndrome have a cardiovascular malformations, frequently obstructive lesions of the left heart.
Intracranial calcification is a well recognized rare manifestation of Adams Oliver syndrome which has not been reported before in Iraq. The  aim of this paper is to describe the first case of this syndrome in Iraq which was associated with periventricular calcifications.
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References
2. Bonafede RP, Beighton P. Autosomal dominant inheritance of scalp defects with ectrodactyly. Am J Med Genet. 1979; 3:35-41.
3. RomanĂ J, Puig L, Aznar G, Demestre X, Altirriba O, Alomar A. Adams-Oliver syndrome with unusual central nervous system alterations. Pediatr Dermatol 1998 Jan-Feb; 15(1):48-50. PMID: 9496805.
4. Unay B, Sarici SU, Gül D, Akin R, Gökçay E. Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. Clin Dysmorphol 2001 Jul; 10(3):223-5. PMID: 11446419.
5. Balasubramanian M, Collins AL. Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome. Eur J Med Genet. 2009 Jul-Aug; 52(4):234-8. PMID: 19416763.
6. Lehman A, Stittrich AB, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M. Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. Am J Med Genet A 2014 Oct; 164A (10):2656-62. PMID: 25091416.
7. PĂ©rez-GarcĂa C, MartĂn YR, Del Hoyo AA, RodrĂguez CM, DomĂnguez MC. Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. Pediatr Rep 2017 Jun 26; 9(2):7211. PMID: 28706620.
8. Jones KM, Silfvast-Kaiser A, Leake DR, Diaz LZ, Levy ML. Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. Pediatr Dermatol 2017 Sep; 34(5):e249-e253. PMID: 28884918.
9. Pisciotta L, Capra V, Accogli A, Giacomini T, Prato G, Tavares P, Pinto-Basto J, Morana G, Mancardi MM. Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. Neuropediatrics 2018 Jun; 49(3):217-221. PMID: 29631299.