Case Report Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa A. M. Ali, 1 R. M. Mbwasi, 1 G. Kinabo, 1 E.-J. Kamsteeg, 2 B. C. Hamel, 2 and M. C. J. Dekker 1,3 1 Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania 2 Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands 3 Department of Neurology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands Correspondence should be addressed to M. C. J. Dekker; marieke@zwets.com Received 27 October 2016; Accepted 6 April 2017; Published 11 May 2017 Academic Editor: Shoji Ichikawa Copyright © 2017 A. M. Ali et al. Tis is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. We report a case of a male baby who has characteristic signs of Freeman–Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndrome and confrmed by genetic analysis that showed a de novo missense mutation c.2015G>A (p.Arg672His) of the MYH3 gene. We highlight the diferent features present in our patient and describe the etiology of the Freeman–Sheldon phenotype and how its clinical complications can be dealt with. To the best of our knowledge, this is the frst molecularly confrmed case of Freeman–Sheldon syndrome in sub-Saharan Africa. 1. Introduction First reported in 1938 by Freeman and Sheldon who initially called it craniocarpotarsal dystrophy [1], Freeman–Sheldon syndrome (FSS; OMIM #193700), also known as craniocar- pal-tarsal dysplasia, windmill vane hand syndrome, distal arthrogryposis type 2A, and whistling-face syndrome, is a rare form of multiple congenital contracture syndrome. It is inherited in an autosomal dominant pattern [2] with most cases occurring sporadically with no family history of the dis- ease. It is characterised by facial and distal limb contractures, the most common being microstomia with pouting lips, camptodactyly with ulnar deviation of the fngers and talipes equinovarus. Facial characteristics comprise micrognathia, microglossia, high arched palate, vertical skin folds in the jaw, H-shaped chin dimple, and a characteristic “mask-like” facies. Other features are dental crowding, strabismus, and hearing loss. Kyphoscoliosis may present later in life. Speech and motor development are delayed; however, cognitive development and life expectancy are usually normal. To date about 100 individuals bearing the characteristic clinical phenotype have been reported [3]. Te genetic basis was unravelled in 2006 with missense mutations in the motor domain of the embryonic myosin heavy chain MYH3 gene, which encodes embryonic myosin, one of the proteins of the contractile complex of skeletal muscle cells [4]. In the African continent, FSS has already been reported in Tanzania [5], South Africa [6], and Egypt [7]. To the best of our knowledge, we hereby describe the frst molecularly con- frmed FSS patient from sub-Saharan Africa, in whom MYH3 mutation analysis revealed a recurrent pathogenic missense mutation. 2. Case Report A newborn male was shortly afer birth referred to our hospi- tal. He was brought in by the mother with a main complaint of abnormal facial, genital, upper, and lower limb features since birth. He was born at term with a gestational age of 39 weeks by spontaneous vaginal delivery, a birth weight of 3.1 kg, and an APGAR score of 5 and 7 in the 1st and 5th minute, respec- tively. He is the 4th child born to healthy and nonconsan- guineous parents. All other children are alive and developing well and none have congenital abnormalities. Currently, the mother is 36 years old and the father is 45 years old. Te mother consumed alcohol about once or twice a month dur- ing pregnancy, never excessive. Pedigree analysis showed that none of the other family members had the same anomalies. Hindawi Case Reports in Genetics Volume 2017, Article ID 9327169, 5 pages https://doi.org/10.1155/2017/9327169