title: Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis.
abstract: Dyggve-Melchiore-Clausen (DMC) syndrome is a are autosomal recessive spondyloepimetaphyseal dysplasia associated with mental retardation resulting from mutations in the Dymeclin (DYM) gene mapped in the 18q12-12.1 chromosomal region. We report a case of a consanguineous Moroccan boy with this disease confirmed by the presence of homozygous mutation at c.1878delA of DYM gene. Our patient additionally has a micropenis. We discuss the clinical severity, difficult management of this syndrome and its association with micropenis never described before in the literature.
authors.affiliation: Department of Endocrinology, Medical School, University Mohamed First, Oujda, Morocco. hlatrech@hotmail.com
authors.forename: Hanane
authors.initials: H
authors.lastname: Latrech
authors.affiliation: Department of Radiology, Medical School, University Mohamed First, Oujda, Morocco.
authors.forename: Imane
authors.initials: I
authors.lastname: Skiker
authors.affiliation: Department of Nephrology, Medical School, University Mohamed First, Oujda, Morocco.
authors.forename: Yassamine
authors.initials: Y
authors.lastname: Bentata
authors.affiliation: Pharmacology, Medical School, University Mohamed First, Oujda, Morocco.
authors.forename: Zayneb
authors.initials: Z
authors.lastname: Alami
authors.forename: O
authors.initials: O
authors.lastname: Mouhib Lav
authors.affiliation: Department of Endocrinology, Medical School, University Mohamed V, Ibn Sina hospital, Rabat, Morocco.
authors.forename: Oumnia Mouhib
authors.initials: OM
authors.lastname: Lah
authors.affiliation: Department of Neurosurgery, Medical School, University Mohamed First, Oujda, Morocco.
authors.forename: Nouredine
authors.initials: N
authors.lastname: Oulali
authors.affiliation: Department of Pediatrics, Medical School, University Mohamed First, Oujda, Morocco.
authors.forename: Nouffissa
authors.initials: N
authors.lastname: Benajiba
authors.affiliation: Department of Pediatrics, Medical School, University Mohamed First, Oujda, Morocco.
authors.forename: S
authors.initials: S
authors.lastname: Benmassoud
authors.affiliation: Department of Pediatrics, Medical School, University Mohamed First, Oujda, Morocco.
authors.forename: Mohammed
authors.initials: M
authors.lastname: El Jabri
authors.affiliation: Department of Endocrinology Pediatrics, Medical School, University Mohamed V, Rabat, Morocco.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Gaouzi
authors.forename: M H
authors.initials: MH
authors.lastname: Gharbi
authors.affiliation: Department of Endocrinology, Medical School, University Mohamed V, Ibn Sina hospital, Rabat, Morocco.
authors.forename: Mohammed El Hassan
authors.initials: Mel H
authors.lastname: Gharbi
authors.affiliation: Department of Endocrinology, Medical School, University Mohamed V, Ibn Sina hospital, Rabat, Morocco.
authors.forename: Abdelmjid
authors.initials: A
authors.lastname: Chradibi
mesh_terms: D002648:Child; D003241:Consanguinity; D004392:Dwarfism / Q000150:complications* / Q000000981:diagnostic imaging; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000000981:diagnostic imaging; D005832:Genital Diseases, Male / Q000150:complications* / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging; D008607:Intellectual Disability / Q000150:complications* / Q000000981:diagnostic imaging; D008297:Male; D009018:Morocco; D010009:Osteochondrodysplasias / Q000150:complications / Q000151:congenital* / Q000000981:diagnostic imaging; D010388:Pelvis / Q000000981:diagnostic imaging; D010413:Penis / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging