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1.
Semin Musculoskelet Radiol ; 28(4): 424-436, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39074725

RESUMEN

Alignment, longitudinal growth, and function of the musculoskeletal unit of the pediatric hand is complex due to the combination of open growth plates, ossification variations, and their relationship with finger tendinous and ligamentous attachments. This review presents the basics of normal development, acquired and congenital variations, and traumatic conditions of the pediatric hand from the perspective of the pediatric musculoskeletal radiologist and hand surgeon. This multimodality imaging article focuses on non-oncologic and non-rheumatologic conditions of the pediatric hand, inclusive of fingers, thumb, and metacarpal bones.


Asunto(s)
Traumatismos de la Mano , Humanos , Niño , Traumatismos de la Mano/diagnóstico por imagen , Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/diagnóstico por imagen
2.
Res Dev Disabil ; 151: 104769, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38865789

RESUMEN

ARID1B-related disorders constitute a clinical continuum, from classic Coffin-Siris syndrome to intellectual disability (ID) with or without nonspecific dysmorphic features. Here, we describe an 11-year-old boy with an ARID1B mutation whose phenotype changed from severe developmental delay and ID to a complex neurodevelopmental disorder with multidimensional impairments, including normal intelligence despite heterogeneous IQ scores, severe motor coordination disorder, oral language disorder and attention-deficit/hyperactivity disorder. Phenotypic changes occurred after early intensive remediation and paralleled the normalization of myelination impairments, as evidenced by early brain imaging. WHAT THIS PAPER ADDS?: This report describes a 10-year multidisciplinary follow-up of a child with an ARID1B mutation who received early intensive remediation and whose phenotype changed during development. Clinical improvement paralleled the normalization of myelination impairments. This case supports a dimensional approach for complex neurodevelopmental disorders.


Asunto(s)
Proteínas de Unión al ADN , Discapacidad Intelectual , Micrognatismo , Fenotipo , Factores de Transcripción , Humanos , Masculino , Niño , Discapacidad Intelectual/genética , Factores de Transcripción/genética , Proteínas de Unión al ADN/genética , Micrognatismo/genética , Micrognatismo/diagnóstico por imagen , Estudios de Seguimiento , Cara/anomalías , Cara/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Encéfalo/anomalías , Deformidades Congénitas de la Mano/genética , Deformidades Congénitas de la Mano/diagnóstico por imagen , Cuello/anomalías , Cuello/diagnóstico por imagen , Trastorno por Déficit de Atención con Hiperactividad/genética , Imagen por Resonancia Magnética , Trastornos del Neurodesarrollo/genética , Anomalías Múltiples/genética , Anomalías Múltiples/diagnóstico por imagen , Discapacidades del Desarrollo/genética , Trastornos de la Destreza Motora/genética , Mutación , Deformidades Congénitas del Pie/genética , Deformidades Congénitas del Pie/diagnóstico por imagen , Inestabilidad de la Articulación/diagnóstico por imagen , Inestabilidad de la Articulación/genética
3.
Med Sci Monit ; 30: e943686, 2024 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-38944680

RESUMEN

BACKGROUND Congenital hypoplasia of the thumb type IV, also known as floating thumb, is a condition in which 2 small phalanges are attached to the hand with a thin skin bridge. Surgical management options for this condition vary from amputation to flap reconstruction. MATERIAL AND METHODS This retrospective study analyzed 11 infants with congenital hypoplasia of the thumb type IV who underwent surgical reconstruction using a modified vascularized polydactylous hallux flap. The study included 6 male and 5 female infants, aged 6 to 24 months. Functional evaluations and radiographic studies were conducted postoperatively. RESULTS All 11 patients underwent the complete surgical protocol. Successful vascular and nerve anastomoses were performed during the initial procedure, ensuring sufficient blood supply and neural connectivity to the transferred toes. The second operation showed promising outcomes, including improvements in thumb opposition, grasp strength, and overall function. Postoperative assessments demonstrated satisfactory radiographic alignment and no major complications during the follow-up period. CONCLUSIONS The modified vascularized polydactylous hallux flap reconstruction is a viable surgical option for managing congenital hypoplasia of the thumb type IV in infants. This technique effectively restores thumb opposition, grasp strength, and overall hand function, with satisfactory radiographic alignment and minimal complications. The study findings support the efficacy and safety of this surgical approach in addressing this rare congenital anomaly.


Asunto(s)
Procedimientos de Cirugía Plástica , Colgajos Quirúrgicos , Pulgar , Humanos , Pulgar/anomalías , Pulgar/cirugía , Pulgar/diagnóstico por imagen , Masculino , Femenino , Estudios Retrospectivos , Lactante , Procedimientos de Cirugía Plástica/métodos , Resultado del Tratamiento , Preescolar , Radiografía/métodos , Fuerza de la Mano/fisiología , Deformidades de la Mano/cirugía , Deformidades Congénitas de la Mano/cirugía , Deformidades Congénitas de la Mano/diagnóstico por imagen
4.
J Hand Surg Eur Vol ; 49(1): 106-108, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37666237

RESUMEN

Clinodactyly can be produced by a longitudinal epiphyseal bracket that generates either a 'delta' or 'trapezoidal' phalanx. We present a case with a 15-year follow-up of bilateral clinodactyly of the little finger, to emphasize a 'wait-and-see' approach as self-remodelling of his phalanges occurred during growth.


Asunto(s)
Falanges de los Dedos de la Mano , Deformidades Congénitas de la Mano , Humanos , Estudios de Seguimiento , Falanges de los Dedos de la Mano/diagnóstico por imagen , Dedos , Epífisis , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/cirugía
5.
Childs Nerv Syst ; 39(2): 517-526, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36155841

RESUMEN

BACKGROUND/IMPORTANCE: Gollop-Wolfgang complex is a rare skeletal dysplasia with only 200 cases reported in the literature. This disorder is usually associated with several extraosseous anomalies. This report describes the first case of a fatty filum terminale and a low-lying conus medullaris in a patient with this complex. A review of the current literature of the Gollop-Wolfgang complex accompanies this case, highlighting the documented extraosseous anomalies seen in this complex. CLINICAL PRESENTATION: We report a case of an 18-month-old patient with Gollop-Wolfgang complex who underwent cord untethering with release of the filum terminale after extensive workup showed the presence of a dyssynergic bladder and radiological evaluation revealed a fatty filum terminale and low-lying conus medullaris. CONCLUSION: Gollop-Wolfgang complex is a skeletal dysplasia usually associated with several extra skeletal anomalies. Our report describes the first case of a fatty filum terminale and low-lying conus medullaris in this complex, as well as provides an overview of the documented anomalies seen in this disorder. A multidisciplinary approach is recommended when treating these infants in order to ensure that occult manifestations of the complex are not missed.


Asunto(s)
Anomalías Múltiples , Cauda Equina , Fémur , Deformidades Congénitas de la Mano , Médula Espinal , Tibia , Cauda Equina/diagnóstico por imagen , Médula Espinal/diagnóstico por imagen , Médula Espinal/cirugía , Anomalías Múltiples/diagnóstico por imagen , Fémur/anomalías , Fémur/diagnóstico por imagen , Deformidades Congénitas de la Mano/diagnóstico por imagen , Tibia/anomalías , Tibia/diagnóstico por imagen , Humanos , Femenino , Lactante , Radiografía , Extrofia de la Vejiga/diagnóstico por imagen , Procedimientos Neuroquirúrgicos
6.
J Hand Surg Am ; 48(7): 738.e1-738.e8, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-35337696

RESUMEN

PURPOSE: To study the long-term results of radial club hand, regarding ulna growth, radial angulation, and volar subluxation using a 2-stage treatment protocol. METHODS: From 1998 to 2009, 39 radial club hands (32 patients) were treated with distraction, radialization, and a bilobed flap. Long-term follow-up was available in 13 patients (17 hands; average 12.6 years, range 9-16 years). All 17 hands were classified as Bayne and Klug grade 3 or 4. RESULTS: The average age at distraction was 12 months (SD 5.3). The average age at radialization was 14 months (SD 5.8). At final follow-up, the average ulna length on the involved side was 69.3% of the uninvolved contralateral side in the unilateral cases. In the 4 bilateral cases, the average ulna length was 62% of the ulna length of a cohort of normal children. The transverse diameter of the ulna in the posteroanterior view was 79%, and in the lateral view 99%, of the radius on the contralateral side in the unilateral cases. The average radial deviation improved from 82° to 8° and the average volar subluxation improved from 20° to 12°. However, in 4 hands recurrent volar subluxation and required revision surgery. CONCLUSIONS: This approach to treatment was associated with consistent results in the correction of the radial angulation, volar subluxation, and ulna growth in long-term follow-up. Volar subluxation may result in a requirement for revision. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.


Asunto(s)
Deformidades Congénitas de la Mano , Cúbito , Niño , Humanos , Lactante , Estudios de Seguimiento , Cúbito/diagnóstico por imagen , Cúbito/cirugía , Radio (Anatomía)/cirugía , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/cirugía , Extremidad Superior
7.
Medicine (Baltimore) ; 101(42): e31237, 2022 Oct 21.
Artículo en Inglés | MEDLINE | ID: mdl-36281136

RESUMEN

RATIONALE: Triphalangeal thumb (TPT) is a rare congenital malformation where the thumb has three phalanges instead of two. Syndactyly is a condition in which children are born with fused or webbed fingers. The combination of TPT, Syndactyly, and thumb duplication is extremely rare, especially when these deformities are combined in one hand. PATIENT CONCERNS: Hand abnormalities and polydactyl have been reported in a 1-year-old boy. DIAGNOSIS: A clinical examination reveals two thumb duplications, finger fusion (Syndactyly), and a thumb with three phalanges (TPT). The diagnosis was based on clinical findings and an X-ray image of the hand. INTERVENTIONS: The Z-plasty method was used to remove the adhesion between the thumb and forefinger, as well as the removal of the medial and distal phalanx of the thumb's medial tip. OUTCOMES: The patient was followed for 2 months and found him in good health. To authors' knowledge, we described an unusual case from Syria, considered the first in medical history. LESSONS LEARNED: General and plastic surgeons should be aware about this unusual mix of the three abnormalities. The family history must also be carefully investigated to explore the occurrence of hereditary illnesses.


Asunto(s)
Deformidades Congénitas de la Mano , Polidactilia , Sindactilia , Humanos , Masculino , Niño , Lactante , Pulgar/cirugía , Pulgar/anomalías , Sindactilia/diagnóstico , Sindactilia/genética , Sindactilia/cirugía , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/genética , Polidactilia/diagnóstico , Polidactilia/cirugía
8.
J Hand Surg Eur Vol ; 47(10): 1045-1055, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35950224

RESUMEN

Mirror hand-ulnar dimelia (MHUD) is rare congenital disorder with a wide range of clinical and radiographic features. The current nomenclature is confusing and the existing classification systems focus mainly on morphology without providing much guidance for treatment. The goal of this study was to review the clinical and radiological features in 13 children with MHUD that were treated at a single institution. Our findings support the hypothesis that MHUD typically involves the entire upper limb, and the treatment plan should consider the predictors of function at each limb segment. A logical and comprehensive management algorithm is proposed.Level of evidence: IV.


Asunto(s)
Deformidades Congénitas de la Mano , Radiología , Niño , Humanos , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/cirugía , Radiografía , Extremidad Superior
9.
J Hand Surg Asian Pac Vol ; 27(1): 178-182, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35172701

RESUMEN

An ulnar cleft hand is a rare congenital deformity presenting with a cleft between the ring and little finger. It may be associated with the absence of a finger. The goals of treatment are cleft closure, increasing the length of the hypoplastic little finger and preservation of function. We report two patients with ulnar cleft hand without missing fingers. Both underwent cleft closure. One was treated by lengthening of the fifth metacarpal with an external fixator, and the other by finger translocation. Both patients achieved a near normal length of the little finger and a reasonable functional and aesthetic outcome. Level of Evidence: Level V (Therapeutic).


Asunto(s)
Deformidades Congénitas de la Mano , Huesos del Metacarpo , Sindactilia , Dedos/anomalías , Dedos/diagnóstico por imagen , Dedos/cirugía , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/cirugía , Humanos , Huesos del Metacarpo/cirugía , Sindactilia/cirugía , Cúbito/diagnóstico por imagen , Cúbito/cirugía
10.
Hand Surg Rehabil ; 40(6): 787-793, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34400369

RESUMEN

This study aimed to compare clinical and radiographical results of total or partial resection of the cross-bone in the management of children with cleft hand. Nine children with 10 cleft hands who underwent resection of the cross-bone were retrospectively identified and divided into two groups based on type of resection: Group T (total resection) including 5 children (5 affected hands; 3 boys; mean age = 3.5 (range, 2-5) years), and Group P (partial resection) including 4 children (5 affected hands; 3 boys; mean age = 3.2 (range, 2-5) years). Mean follow-up was 68 (range, 60-85) months in group T and 47 (range, 40-60) months in group P. To assess clinical status, postoperative cosmetic satisfaction was evaluated by asking the parents, and cosmetic appearance was rated using a visual analogue scale (VAS) at the follow-up. In the radiographical evaluation, change in cleft divergence following reconstruction was assessed as the metacarpal divergence angle between the index and the ring finger metacarpals. Overall, cosmetic satisfaction was rated "very satisfied" or "satisfied" in 7 of the 10 hands, and functional satisfaction as "very satisfied" or "satisfied" in all. Mean postoperative cosmetic aspect on VAS was 6.4 (range, 5-8) in group T, and 6.2 (range, 4-8) in group P (p = 0.99). Mean metacarpal divergence angle significantly decreased from 42.2° (range, 35-52°) and 40.2° (range, 36-46°) preoperatively to 21.2° (range, 15-35°) and 19.8° (range = 12-31°) at 3-year follow-up in groups T and P, respectively (p < 0.001 for each group). Both total and partial cross-bone resection provided satisfactory clinical and radiographical medium-term results for of children with cleft hand.


Asunto(s)
Deformidades Congénitas de la Mano , Huesos del Metacarpo , Niño , Preescolar , Mano , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/cirugía , Humanos , Masculino , Huesos del Metacarpo/cirugía , Radiografía , Estudios Retrospectivos
11.
J Craniofac Surg ; 32(8): 2823-2826, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34183625

RESUMEN

ABSTRACT: Otopalatodigital syndrome spectrum disorders are caused by Filamin A (FLNA) gene mutations. Otopalatodigital syndrome spectrum disorders are a group of rare congenital skeletal dysplasia, with specific craniomaxillofacial features including otopalatodigital syndrome type 1 and type 2, Melnick-Needles syndrome, frontometaphyseal dysplasia, terminal osseous dysplasia with pigmentary defects. The authors describe cases of a young girl with Melnick-Needles syndrome and a young boy with frontometaphyseal dysplasia treated in the Oral and Maxillofacial Surgery Department. Both patients had FLNA gene mutation confirmed with molecular genetic analysis. The authors proposed a 4 step treatment of the malformations with good outcomes both aesthetically and functionally, without complication.


Asunto(s)
Anomalías Craneofaciales , Enfermedades Genéticas Ligadas al Cromosoma X , Deformidades Congénitas de la Mano , Osteocondrodisplasias , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/cirugía , Femenino , Filaminas/genética , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/genética , Deformidades Congénitas de la Mano/cirugía , Humanos , Masculino , Mutación , Osteocondrodisplasias/genética , Osteocondrodisplasias/cirugía , Fenotipo
12.
Congenit Anom (Kyoto) ; 61(5): 193-196, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34056762

RESUMEN

Acral clinical and radiographic characteristics of a further patient with Coffin-Siris syndrome (CSS), which is caused by mutations in the ARID1B gene, encoding a subunit of the BAF-complex, are here described. Metacarpophalangeal profile pattern analysis (MCPPPA) of the present proband and other two known ARID1B mutated individuals has been performed for the first time, demonstrating hands brachydactyly. In this novel study, the utility of an accurate appendicular radiographic examination and MCPPPA in this congenital condition is highlighted. The MCPPPA could be considered in the clinical practice, to better study the hand skeletal morphology in patients with a syndrome characterized by limb defects, including CSS.


Asunto(s)
Anomalías Múltiples , Deformidades Congénitas de la Mano , Discapacidad Intelectual , Micrognatismo , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/genética , Adolescente , Proteínas de Unión al ADN , Cara , Femenino , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/genética , Humanos , Micrognatismo/diagnóstico por imagen , Micrognatismo/genética , Cuello , Factores de Transcripción/genética
14.
Ann R Coll Surg Engl ; 103(5): e173-e176, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33682460

RESUMEN

Vascular arteriovenous malformations originate during the early stages of embryonic development and generally grow progressively, especially during adolescence and pregnancy. Limb salvage using microsurgery is presented, in a patient with an arteriovenous malformation who was initially a candidate for limb amputation. En bloc resection of the arteriovenous malformation of all segments with extended brachial approach and the cutaneous component was performed, with an anterolateral thigh free flap for the lateral reconstruction of the hand.


Asunto(s)
Malformaciones Arteriovenosas/cirugía , Colgajos Tisulares Libres/cirugía , Deformidades Congénitas de la Mano/cirugía , Recuperación del Miembro/métodos , Muslo/cirugía , Adolescente , Malformaciones Arteriovenosas/diagnóstico por imagen , Femenino , Colgajos Tisulares Libres/irrigación sanguínea , Mano/irrigación sanguínea , Mano/diagnóstico por imagen , Mano/cirugía , Deformidades Congénitas de la Mano/diagnóstico por imagen , Humanos , Microcirugia/métodos , Muslo/irrigación sanguínea
15.
BMJ Case Rep ; 14(1)2021 Jan 18.
Artículo en Inglés | MEDLINE | ID: mdl-33461995

RESUMEN

We report a child, diagnosed with Coffin-Siris syndrome (CSS), with chronic right otorrhoea. CT and DR-MRI were performed to further investigate, diagnose and determine relevant surgical anatomy. CT temporal bones assessment was performed, and the measurements compared with previously published data for normal temporal bone anatomy. These comparisons highlighted various differences which were not initially expected; it showed that there were multiple inner ear abnormalities in addition to middle ear disease. This case highlights the importance of considering temporal bone abnormalities in all children with CSS or any dysmorphia, when they may require mastoid procedures. Reviewing the management of this case provides relevant learning opportunities for both primary, secondary and tertiary care institutions.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/etiología , Cara/anomalías , Deformidades Congénitas de la Mano/diagnóstico por imagen , Discapacidad Intelectual/diagnóstico por imagen , Imagen por Resonancia Magnética , Micrognatismo/diagnóstico por imagen , Cuello/anomalías , Hueso Temporal/anomalías , Tomografía Computarizada por Rayos X , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Niño , Cara/diagnóstico por imagen , Deformidades Congénitas de la Mano/complicaciones , Humanos , Discapacidad Intelectual/complicaciones , Masculino , Micrognatismo/complicaciones , Cuello/diagnóstico por imagen , Hueso Temporal/diagnóstico por imagen
16.
Am J Med Genet A ; 185(3): 986-989, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33368989

RESUMEN

Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the RAB23 gene, a previously described homozygous variant c.82C>T p.(Arg28*) was detected that results in a premature stop codon. Both parents were demonstrated to be heterozygous carriers of this variant. Herewith, its pathogenicity is proved. A literature search suggests this is the first molecularly confirmed case of Carpenter syndrome in continental Africa.


Asunto(s)
Anomalías Múltiples/genética , Acrocefalosindactilia/genética , Codón sin Sentido , Mutación Puntual , Proteínas de Unión al GTP rab/genética , Anomalías Múltiples/epidemiología , Acrocefalosindactilia/diagnóstico por imagen , Acrocefalosindactilia/epidemiología , Femenino , Deformidades Congénitas del Pie/diagnóstico por imagen , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/genética , Homocigoto , Humanos , Procesamiento de Imagen Asistido por Computador , Lactante , Masculino , Fenotipo , Examen Físico , Tanzanía/epidemiología , Tomografía Computarizada por Rayos X , Proteínas de Unión al GTP rab/deficiencia
17.
Am J Med Genet A ; 185(3): 952-954, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33369046
18.
Medicine (Baltimore) ; 99(39): e22294, 2020 Sep 25.
Artículo en Inglés | MEDLINE | ID: mdl-32991433

RESUMEN

RATIONALE: Kirner's deformity is an uncommon deformity of finger, characterized by palmo-radial curvature of distal phalanx of the fifth finger. The specific mechanism remains unknown yet. This study aims to present a case report to add the knowledge on this type of deformity. PATIENT CONCERNS: A 9-year-old girl presenting with deformity of her fifth finger since she was born was admitted to our hand surgery clinic. MRI findings showed widened epiphyseal plate, L-shaped physis, but normal flexor digitorum profundus tendon insertion, without any significantly enhanced soft issues. DIAGNOSIS: Kirner's deformity of the fifth finger. INTERVENTIONS: We presented 2 surgical choices for the patient: one was wedge osteotomy of the distal phalanx to correct the mechanical line of the distal phalanx and fixation with Kirschner wire and the other one was cut-off of deep flexor tendon insertion with brace immobilization, but her guardians refused either of them. OUTCOMES: Consecutive follow-up was performed for 19 months after the first visit, showing no any change in finger shape and function. LESSONS: The L-shaped epiphyses may be the cause of Kirner's deformity and further attention should be paid on in the clinic. This case report provided a basis for the etiological diagnosis and future treatment of Kirner's deformity.


Asunto(s)
Falanges de los Dedos de la Mano/anomalías , Deformidades Congénitas de la Mano/diagnóstico por imagen , Osteotomía/instrumentación , Cuidados Posteriores , Hilos Ortopédicos/normas , Tirantes/normas , Niño , Femenino , Falanges de los Dedos de la Mano/cirugía , Placa de Crecimiento/anomalías , Placa de Crecimiento/diagnóstico por imagen , Deformidades Congénitas de la Mano/cirugía , Humanos , Imagen por Resonancia Magnética/métodos , Osteotomía/métodos , Tendones/diagnóstico por imagen , Tendones/cirugía , Negativa del Paciente al Tratamiento
19.
Am J Med Genet C Semin Med Genet ; 184(3): 644-655, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32888375

RESUMEN

Mosaic genetic mutations may be somatic, germline, or "gonosomal" and have the potential to cause genetic syndromes, disorders, or malformations. Mutations can occur at any point in embryonic development and the timing determines the extent of distribution of the mutation throughout the body and different tissue types. The eye and visual pathway offer a unique opportunity to study somatic and gonosomal mosaic mutations as the eye consists of tissues derived from all three germ layers allowing disease pathology to be assessed with noninvasive imaging. In this review, we describe systemic and ocular manifestations in a child with mosaic Coffin-Siris syndrome. The patient presented with a significant medical history of accommodative esotropia and hyperopia, macrocephaly, polydactyly, global developmental delay, hypotonia, ureteropelvic junction (UPJ) obstruction, and brain MRI abnormalities. The ophthalmic findings in this patient were nonspecific, however, they are consistent with ocular manifestations reported in other patients with Coffin-Siris syndrome. We also review ophthalmic findings of select mosaic chromosomal and single-gene disorders. Ophthalmic assessment alongside clinical genetic testing may play an important role in diagnosis of genetic syndromes as well as understanding disease pathology, particularly when mosaicism plays a role.


Asunto(s)
Anomalías Múltiples/genética , Encéfalo/diagnóstico por imagen , Proteínas de Unión al ADN/genética , Cara/anomalías , Predisposición Genética a la Enfermedad , Deformidades Congénitas de la Mano/genética , Discapacidad Intelectual/genética , Micrognatismo/genética , Cuello/anomalías , Factores de Transcripción/genética , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/patología , Encéfalo/anomalías , Niño , Preescolar , Cara/diagnóstico por imagen , Cara/patología , Femenino , Deformidades Congénitas de la Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/patología , Humanos , Lactante , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/patología , Masculino , Micrognatismo/diagnóstico por imagen , Micrognatismo/patología , Mosaicismo , Mutación/genética , Cuello/diagnóstico por imagen , Cuello/patología , Proteínas Nucleares/genética , Fenotipo
20.
Pan Afr Med J ; 36: 75, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32774634

RESUMEN

Congenital radioulnar synostosis is a rare developmental skeletal malformation of the upper limb, characterized by the fusion of the proximal ends of the radius and ulna from birth. The failure of prenatal longitudinal segmentation of the adjacent radius and ulna results in a fibrous bony bridge between the radius and ulna. We present a 23-year-old female who presented with pain and restricted mobility of the left elbow joint for 7 years. A plain X-ray was performed for the patient, revealing a diagnosis of congenital radio-ulnar synostosis. Careful evaluation of the anatomical relations and spatial orientation of bony structures is required for the diagnosis and treatment of such cases.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Articulación del Codo/diagnóstico por imagen , Deformidades Congénitas del Pie/diagnóstico por imagen , Deformidades Congénitas de la Mano/diagnóstico por imagen , Sindactilia/diagnóstico por imagen , Anomalías Múltiples/fisiopatología , Femenino , Deformidades Congénitas del Pie/fisiopatología , Deformidades Congénitas de la Mano/fisiopatología , Humanos , Radiografía , Sindactilia/fisiopatología , Adulto Joven
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