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.
Large palatal fistulas are a challenging problem in cleft surgery. Many techniques are used to close the defect. The tongue flap is an easy and reproductible procedure for managing this complication. The authors report a case of a large palatal fistula closure with anteriorly based tongue flap.
Injury that occurs to a finger wearing a ring though rare can have grave consequences. It is a preventable injury which has a peculiar mode of trauma that is usually occupational. Injury ranges from simple contusion to degloving of soft tissues to traumatic amputation. We hereby report our experience of four cases of finger avulsion injuries due to a ring and discuss their variable clinical presentation and individualized management.
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.
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.
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