Results 61 to 70 of about 12,301 (210)
Clinical Genetics, EarlyView.A novel rare variant of the OFD1 gene was identified in a family with dental hypoplasia, facial hypoplasia, and adult‐onset multiple atypical fractures of long bones. Another variant of the OFD1 gene was found in a woman with bisphosphonate‐associated atypical femur fracture.
Marie‐Ève Boisvert +12 more
wiley +1 more source
Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory
Clinical Genetics, EarlyView.Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco +14 more
wiley +1 more source
Seqüência de Robin: protocolo único de tratamento Robin sequence: a single treatment protocol
Jornal de Pediatria, 2005 OBJETIVO: Apresentar protocolo único que possa atender tanto às dificuldades respiratórias como às dificuldades alimentares dos neonatos e lactentes com seqüência de Robin.
Ilza L. Marques +5 more
doaj +1 more source
Anophthalmia with cleft palate and micrognathia: a new syndrome?
, 1994 A 5 day old male with bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes is described. There have been two case reports with similar clinical manifestations but associated with interstitial deletion
Phadke, S. R. +2 more
core +1 more source
3D computed tomographic evaluation of the upper airway space of patients undergoing mandibular distraction osteogenesis for micrognathia. [PDF]
, 2015 Mandibular distraction osteogenesis (MDO) is currently an accepted method of treatment for patients requiring reconstruction of hypoplastic mandibles.
BIANCHI, ALBERTO +11 more
core +2 more sources
, 2020 A 34-year-old woman with mandibular micrognathia, vertical maxillary excess, and an open bite characterized by a “bird-face” deformity was treated with orthodontics combined with LeFort I and bilateral inverted L osteotomies. The total treatment time was
Grubb, John +4 more
core +1 more source
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich +3 more
wiley +1 more source
Journal of Internal Medicine, EarlyView.Abstract Lipodystrophy comprises a heterogeneous group of disorders characterized by reduced adipose tissue often associated with severe metabolic complications. Lipodystrophy may be genetic, acquired, or secondary to medical therapies initiated for other conditions.
Robert K. Semple +25 more
wiley +1 more source
, 1999 This is a photograph of an 11 year old girl with pronounced micrognathia as a result of bilateral temporo - mandibular arthritis in longstanding juvenile rheumatoid arthritis.
core
Richner-hanhart syndrome and its otorhinolaryngologic manifestations - case report
International Archives of Otorhinolaryngology, 2011 Introduction: Richner-Hanhart Syndrome is characterized by the absence in a variable degree of distal portions of one or more extremities, in association with micrognathia and severe microglossia. The etiology of this infrequent syndrome remains unknown.
Tinoco, Luiz Eduardo Olivier +5 more
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