%0 Journal Article
%T Chromosome 3q29 deletion with gastrointestinal malformation: a case report
%A Ma'in Masarweh
%J Journal of Medical Case Reports
%D 2011
%I BioMed Central
%R 10.1186/1752-1947-5-285
%X A three-month-old female Jordanian baby presented with an absent anus and corneal opacities and was referred for further management after a diverting colostomy operation at the age of one day.Chromosome 3q29 deletion is associated with additional abnormalities to neurological ones, such as ano-rectal malformations. We need to investigate a patient fully to find such hidden clinical features.Chromosome 3q deletion syndrome, 3q-syndrome, and monosomy 3q are all synonyms of the same clinical description, and it is considered an uncommon anomaly [1]. This condition is not associated with any antenatal abnormalities, and the birth history is uneventful in most patients [2]. Deletion of the long arm of chromosome 3 may present with variable phenotypes, consisting mainly of microcephaly, unusual facial appearance, eye abnormalities, deformed ears, and a delay in growth and development. A partial deletion of the long arm of chromosome 3, mainly the q23-q25 and q22-q23 bands, is associated with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), and most reported cases are linked to this deletion [3].The major phenotypic features involve nearly all of the systems, including the head and neck (microcephaly, dolichocephaly, trigonocephaly, retro-micrognathia, large abnormally shaped posteriorly rotated and low-set ears, prominent or beaked nose, broad nasal bridge, and cleft lip and palate), the spine (13 thoracic vertebrae and scoliosis or kyphosis), the heart, and the nervous system [4]. It has been reported that some deletions are hereditary, such as the 3q23-q25 deletion, and some of them may be associated with female infertility [3,5].A three-month-old Jordanian female baby was vaginally delivered at full-term to a 25-year-old mother on her second pregnancy, the first being successfully carried past 20 weeks (G2P1). The baby's parents were healthy and non-related. She presented with a history of ano-rectal malformation for further management. She underwent sigmoi
%U http://www.jmedicalcasereports.com/content/5/1/285