Severe phenotype in two half-sibs with Adams Oliver syndrome

Abstract

Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance.Objective. To present a family with two half-sibs with a severe phenotype of Adams Oliver syndrome in which the mother was healthy. Case report. A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. We propose that autosomal dominant inheritance with reduced penetrance or gonadal mosaicismhas to be considered in Adams Oliver syndrome with severe intracranial anomalies. Key words. Adams Oliver, aplasia cutis, terminal transverse limb defect.http://dx.doi.org/10.5546/aap.2014.eng.e108 IntroduCtIonIn 1945, Adams and Oliver 1 were the first to describe the combination of cranial aplasia cutis congenita (ACC) with terminal transverse limbs defects (TTLD). Since then, a wide phenotypic spectrum has been reported in these patients.The ACC is mostly localized at the vertex where it can be associated with different degrees of damage to the periosteum, bone and dura. 1 Some reports have described the presence of encephalocele 2 and acrania 3 as part of a severe form of this syndrome.Fryns 4 was the first to describe a probable association between Adams Oliver syndrome severe phenotype in two half-sibs with Adams oliver syndrome (AOS) with structural intracranial anomalies. It has been proposed that 32% of patients with autosomal recessive inheritance present a severe neurological phenotype with microcephaly, mental retardation and intracranial anomalies. However, these anomalies are also seen in cases with an apparent autosomal dominant inheritance. 2,6 The purpose of this paper is to report two half-sibs with severe Adams Oliver syndrome with the finding of an amniotic band attached to the placenta, to list possible etiologies and the inheritance patterns of this syndrome. Case reportA 27 year old woman G5, C2,A2, was referred to the Genetics Department at 16 weeks of gestation with an ultrasound that reported fetal hydrocephaly. She had the history of two spontaneous first trimester miscarriages with her first partner;an apparently healthy son who had a sudden death without an apparent cause at the age of 1 year 8 months and a female stillbirth from her second partner. That girl showed acrania and constriction rings with distal transversal limb defects of the left 4 th and 5 th finger; a clinical diagnosis of amniotic band syndrome was given at that time. The pathology report revealed meroacrania, amputation of the fifth finger of the left hand, complete left eye and partial right exophthalmos. Our proband is the daughter of the mother´s third partn...