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Case Report

Congenital limbs deficiency versus phocomelia the hard workup with the subtleties and malformations accompanying the syndromes images: Case series

Mohammed Joudi Aboud, Shaimaa Mohammed Kadhim, Noor Mohammed Abudi, Haidar Mohammed Joudi, Zeena Mohammed Joudi.

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Background; Limb Deficiencies syndrome (LDS) is a spectrum of abnormalities present at birth. LDS are missing or incomplete limbs at birth. LDS can be Longitudinal (more common), or transverse deficiencies that involve specific mal developments. Splint hand foot malformation (SHFM) is one of the images of these deficiencies. LDS has been reported in conjunction with more than 75 genetic syndromes. Objective; We reported the conflicting images of these two rare malformations to claim knowledge about the presentation, having features of both critically associated anomalies, and the workup consideration with the treatment options. Presentation; CASE 1: a 2-day-old female neonate born at full term through Cesarean delivery at the 37th week of gestation presented with persistent cloaca. The patient was noted to have deformities resembling a “lobster claw” to both her feet and each hand had only a single digit; the foot may not have all five toes; the right leg is shorter than the other (a leg length discrepancy) with stable hips. CASE 2: a 37-week gestation male infant was born via cesarean section to a 32-year-old mother (consanguineous marriage). A routine prenatal ultrasound study revealed images of relatively undeveloped limbs and pelvic bones with an accumulation of spinal fluid under the skull (hydrocephalus). On initial assessment, the infant was noted to have facial abnormalities, Shortened neck; the eyes pointed downward. Images of phocomelia were suggested. Conclusion; LDS and phocomelia are very diverse in their epidemiology, aetiology, and anatomy and usually require a low threshold and careful intervention to improve functional and aesthetic outcomes. Physicians and caregiver should assign their workup precisely for the evaluations following initial diagnosis, prevention of primary manifestations, and prevention of secondary complications.

Key words: Limb deficiency, phocomelia, malformations, images

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