De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report

International audienceIntroduction: Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2.Case presentation: A one-month-old Moroccan baby boy was diagnosed with typical features of popliteal pterygium syndrome and carried the c.250C>T; p.Arg84Cys mutation of the IRF6 gene.Conclusions: We report on the first description of a Moroccan popliteal pterygium syndrome patient. This diagnosis allowed us to provide an appropriate course of management to the patient and offer genetic counseling to his family

Reversed cross finger subcutaneous flap: A rapid way to cover finger defects

Adequate coverage of dorsal finger wounds is often a challenge. The reversed cross finger subcutaneous flap to cover defects on the dorsum of phalanx constitutes an excellent option for coverage of wounds over the middle and distal phalanges of the index, middle, ring, and small fingers. It′s an easy flap and represents our first choice to cover those defects

Reversed cross finger subcutaneous flap: A rapid way to cover finger defects

Adequate coverage of dorsal finger wounds is often a challenge. The reversed cross finger subcutaneous flap to cover defects on the dorsum of phalanx constitutes an excellent option for coverage of wounds over the middle and distal phalanges of the index, middle, ring, and small fingers. It's an easy flap and represents our first choice to cover those defects

Métastase mandibulaire révélatrice d’un carcinome vésiculaire de la thyroïde : A propos d’un cas

Introduction : Les métastases au niveau des maxillaires sont inhabituelles et représentent près de 1 % des tumeurs malignes de la cavité buccale. Observation : Nous rapportons le cas d’une patiente âgée de 40 ans qui présentait une masse mandibulaire droite mimant sur le plan radiologique un améloblastome mandibulaire. L’examen anatomopathologique de la pièce de résection chirurgicale a objectivé une métastase mandibulaire d’un carcinome vésiculaire (CV) de la thyroïde jusque-là méconnu. Discussion : L’extension extrathyroïdienne d’un carcinome vésiculaire, même invasif, est rare et apparaît tardivement. Elle se fait essentiellement par voie veineuse avec deux sites métastatiques préférentiels : le poumon et les os. Ce risque métastatique est l’apanage quasi exclusif des CV angio-invasifs avec invasion franche. Bien que rare, la métastase mandibulaire révélatrice d’un carcinome vésiculaire de lathyroïde doit être gardée à l’esprit

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report

Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same individual. SHFM might be non-syndromic with limb-confined manifestations or syndromic with extra-limb manifestations. Isolated SHFM is a rare condition with an incidence of about 1 per 18,000 live born infants and accounts for 8-17% of all limb malformations. To date, many chromosomal loci and genes have been described as associated with isolated SHFM, i.e., SHFM1 to 6. SHFM6 is one of the rarest forms of SHFM, and is caused by mutations in WNT10B gene. Less than ten pathogenic variants have been described. We have investigated a large consanguineous Moroccan family with three affected members showing feet malformations with or without split hand malformation phenotypes. Using an exome sequencing approach, we identified a homozygous nonsense variant p.Arg115* of WNT10B gene retaining thereby the diagnosis of SHFM6. This homozygous nonsense mutation identified by exome sequencing in a large family of split hand foot malformation highlights the importance of exome sequencing in genetically heterogeneous entities