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2.
Int J Pediatr Otorhinolaryngol ; 117: 57-60, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30579089

RESUMO

DOOR syndrome is an extremely rare genetic disorder. "DOOR″ is an acronym to describe the combination of: deafness, onychodystrophy, osteodystrophy and mental retardation. We present a patient, with all of the above-mentioned main symptoms, that was rehabilitated with convencional hearing aids. The presented case suggested that every case of deafness and abnormal nails and phalanges in the hands and feet should have a clinical diagnosis of possible DOOR syndrome. Based on embryological process, congenital abnormal nails or phalanges highlights the importance for detailed hearing screening.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Surdez/etiologia , Deformidades Congênitas da Mão/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Deficiência Intelectual/etiologia , Unhas Malformadas/etiologia , Proteínas de Transporte/genética , Pré-Escolar , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/terapia , Surdez/terapia , Potenciais Evocados Auditivos , Feminino , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/terapia , Auxiliares de Audição , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/terapia , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Mutação , Unhas Malformadas/complicações , Unhas Malformadas/diagnóstico , Unhas Malformadas/terapia , Tomografia Computadorizada por Raios X
3.
Pan Afr Med J ; 30: 99, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30344883

RESUMO

Femoral bifurcation and tibial hemimelia are rare anomalies described as a variant of Gollop-Wolfgang complex. This article presents a case of Gollop-Wolfgang complex without hand ectrodactyly. A 5-year old patient presented with bilateral tibial hemimelia and left femoral bifurcation. The patient's left limb lacked knee extensor mechanism, disarticulation was done. The right leg which had Jones type 2 tibia hemimelia was treated with tibiofibular synostosis. Currently patient is ambulant with prosthesis on the left limb and ankle foot orthosis on the right. In the absence of proximal tibial anlage, especially in patients with femoral bifurcation, the knee should be disarticulated. Tibiofibular synostosis is a good choice in the presence of a proximal tibial anlage with good quadriceps function.


Assuntos
Anormalidades Múltiplas/diagnóstico , Ectromelia/diagnóstico , Fêmur/anormalidades , Deformidades Congênitas da Mão/diagnóstico , Tíbia/anormalidades , Anormalidades Múltiplas/terapia , Pré-Escolar , Ectromelia/terapia , Feminino , Deformidades Congênitas da Mão/terapia , Humanos , Articulação do Joelho/anormalidades , Próteses e Implantes , Resultado do Tratamento
5.
J Genet ; 97(1): 35-46, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29666323

RESUMO

Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in the SETBP1 gene have been identified as the genetic cause of SGS. Here, we report a novel case with the syndrome with a novel insertion mutation in SETBP1. We also present a review of SGS cases, and first revise diagnostic criteria of SGS based on clinicalfindings and/or SETBP1 mutation worldwide. A revised diagnostic criteria and typing of SGS can be determined. Type I (complex and classic type) SGS patients present a development delay and typical facial features (prominent forehead, midface retraction, and short and upturned nose) associated with hydronephrosis or two of the characteristic skeletal anomalies (a sclerotic skull base, wideoccipital synchondrosis, increased cortical density or thickness, and broad ribs). Type II (middle type) patients show development delay and the distinctive facial phenotype (midface retraction, short and upturned nose), lacking both hydronephrosis and typical skeletal abnormalities, with existence of SETBP1mutation. Type III (simple type) patients with SETBP1 alteration show their major symptom is development delay, in which expressive language delay is the most striking feature. Central nervous system involvement with development delay in which expressive language delay is much more obviously affected is the most prominent feature of SGS. There is another indication that severity of phenotype of SGS may be inversely correlated with degree of SETBP1 alteration, besides gain-of-function or dominant-negative effects in SETBP1 alteration causing SGS.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Deformidades Congênitas da Mão/diagnóstico , Deficiência Intelectual/diagnóstico , Unhas Malformadas/diagnóstico , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Sequência de Bases , Proteínas de Transporte/genética , Criança , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/genética , Análise Mutacional de DNA , Eletroencefalografia , Feminino , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/genética , Heterozigoto , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/genética , Unhas Malformadas/diagnóstico por imagem , Unhas Malformadas/genética , Proteínas Nucleares/genética , Mutação Puntual/genética
8.
Mol Genet Genomic Med ; 6(2): 230-248, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29397575

RESUMO

BACKGROUND: The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory arthropathy, coxa vara, and pericarditis. CACP is caused by mutations in the proteoglycan 4 (PRG4) gene, which encodes a lubricating glycoprotein present in the synovial fluid and at the surface of articular cartilage. METHODS: In the present study, we compared the clinical and molecular findings of CACP syndrome in 35 patients from 11 unrelated families. In 28 patients, whole exome sequencing was used to investigate genomic variations. RESULTS: We found that camptodactyly of hands was the first symptom presented by most patients. Swelling of wrists, knees, and elbows began before 4 years of age, while the age of joint involvement was variable. Patients reported an increased pain level after the age of 10, and severe hip involvement developed after 20 years old. All patients presented developmental coxa vara and seven patients (~22%) had pleural effusion, pericarditis, and/or ascites. We identified nine novel genomic alterations, including the first case of homozygous complete deletion of exon 1 in the PRG4 gene. CONCLUSION: With this study, we contribute to the catalog of CACP causing variants. We confirm that the skeletal component of this disease worsens with age, and presents the potential mechanisms for interfamily variability, by discussing the influence of a modifier gene and escape from nonsense-mediated mRNA decay. We believe that this report will increase awareness of this familial arthropathic condition and the characteristic clinical and radiological findings will facilitate the differentiation from the common childhood rheumatic diseases such as juvenile idiopathic arthritis.


Assuntos
Artropatia Neurogênica/diagnóstico , Artropatia Neurogênica/genética , Coxa Vara/diagnóstico , Coxa Vara/genética , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Proteoglicanas/genética , Sinovite/diagnóstico , Sinovite/genética , Adolescente , Adulto , Criança , Pré-Escolar , Éxons/genética , Feminino , Estudos de Associação Genética/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Proteoglicanas/metabolismo , Estudos Retrospectivos , Deleção de Sequência , Sequenciamento Completo do Exoma/métodos
10.
J Hum Genet ; 63(4): 517-520, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29410511

RESUMO

Overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features are the main symptoms of Weaver syndrome, a rare condition caused by mutations in EZH2 gene. Recently, in four patients with Weaver-like symptoms without mutations in EZH2 gene, pathogenic variants in EED were described. We present another patient clinically diagnosed with Weaver syndrome in whom WES revealed an EED de novo mutation affecting two neighboring aminoacids, NM_003797.3:c.917_919delinsCGG/p.(Arg306_Asn307delinsThrAsp) located in one allele (in cis). Our observation, together with previous reports suggests that EED gene testing is warranted in patients with the overgrowth syndrome features and suspicion of Weaver syndrome with normal results of EZH2 gene sequencing.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Substituição de Aminoácidos , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Mutação , Complexo Repressor Polycomb 2/genética , Alelos , Análise Mutacional de DNA , Facies , Humanos , Lactente , Masculino , Fenótipo , Sequenciamento Completo do Exoma
11.
J Clin Neuromuscul Dis ; 19(2): 76-79, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29189552

RESUMO

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disease due to mutation in the Cytokine receptor-like factor 1 (CRLF1). The characteristic symptom of CISS is the tendency to sweat profusely especially in the upper body and hands when the patient is exposed to cold temperature. We sought to first report the findings of autonomic reflex screen in a case of CISS type 1 with Cytokine receptor-like factor 1 mutation. Valsalva morphology, Valsalva ratio, and heart rate response to deep breathing were normal for the patient's age. Quantitative sudomotor axon reflex test showed nonlength dependent decrease in the sweat volume. Tilt table revealed evidence of reflex (vasovagal) "syncope," however, the patient was asymptomatic without loss of consciousness.


Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/fisiopatologia , Hiperidrose/diagnóstico , Hiperidrose/fisiopatologia , Reflexo/fisiologia , Trismo/congênito , Clonidina/uso terapêutico , Morte Súbita , Facies , Deformidades Congênitas da Mão/tratamento farmacológico , Frequência Cardíaca/fisiologia , Humanos , Hiperidrose/tratamento farmacológico , Masculino , Condução Nervosa/fisiologia , Simpatolíticos/uso terapêutico , Trismo/diagnóstico , Trismo/tratamento farmacológico , Trismo/fisiopatologia , Manobra de Valsalva/fisiologia , Adulto Jovem
12.
Am J Med Genet A ; 173(11): 3104-3108, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28884947

RESUMO

We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and Coffin-Siris syndrome, providing further arguments to reclassify these disorders as "SWI/SNF-related intellectual disability syndromes."


Assuntos
Proteínas Cromossômicas não Histona/genética , Deficiência Intelectual/genética , Transtornos Motores/genética , Fatores de Transcrição/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Pré-Escolar , Face/anormalidades , Face/patologia , Facies , Feminino , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/patologia , Predisposição Genética para Doença , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/patologia , Humanos , Hipotricose/diagnóstico , Hipotricose/genética , Hipotricose/patologia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/patologia , Deficiência Intelectual/fisiopatologia , Micrognatismo/diagnóstico , Micrognatismo/genética , Micrognatismo/patologia , Transtornos Motores/fisiopatologia , Pescoço/anormalidades , Pescoço/patologia
13.
J Genet ; 96(4): 647-652, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28947713

RESUMO

Hand-foot-genital syndrome (HFGS) is a rare autosomal dominant inherited syndrome characterized by limb malformations and urogenital defects. HFGS is caused by mutations in the HOXA13 gene. The aim of this study was to identify causative mutations in individuals and to explore the molecular pathogenesis in a Chinese family with HFGS. We performed Sanger sequencing and identified a recurrent missense mutation in the homeodomain (c.1123G>T, p.V375F) of HOXA13, molecular modelling predicted the mutation would affect DNA binding, and a luciferase reporter assay indicated that it impaired the ability of HOXA13 to activate transcription of the human EPHA7 promoter. This is the first report of the molecular basis for HFGS caused by missense mutations of HOXA13.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Proteínas de Homeodomínio/genética , Mutação de Sentido Incorreto , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/genética , China , Análise Mutacional de DNA , Família , Feminino , Estudos de Associação Genética , Genótipo , Proteínas de Homeodomínio/química , Humanos , Masculino , Modelos Moleculares , Linhagem , Fenótipo , Regiões Promotoras Genéticas , Conformação Proteica
14.
Zhongguo Dang Dai Er Ke Za Zhi ; 19(8): 921-925, 2017 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-28774369

RESUMO

Schinzel-Giedion syndrome is a rare autosomal dominant genetic disease and has the clinical features of severe delayed development, unusual facies, and multiple congenital malformations. In this case report, a 14-month-old boy had the clinical manifestations of delayed development, unusual facies (prominent forehead, midface retraction, hypertelorism, low-set ears, upturned nose, and micrognathia), and multiple congenital malformations (including cerebral dysplasia, dislocation of the hip joint, and cryptorchidism). The karyotype analysis and copy number variations showed no abnormalities, and whole exon sequencing showed a de novo heterozygous missense mutation, c.2602G > A (p. D868N), in SETBP1 gene. Therefore, the boy was diagnosed with Schinzel-Giedion syndrome. Myoclonic seizures in this boy were well controlled by sodium valproate treatment, and his language development was also improved after rehabilitation treatment. Clinical physicians should improve their ability to recognize such rare diseases, and Schinzel-Giedion syndrome should be considered for children with unusual facies, delayed development, and multiple malformations. Gene detection may help with the diagnosis of this disease.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Face/anormalidades , Deformidades Congênitas da Mão/diagnóstico , Deficiência Intelectual/diagnóstico , Unhas Malformadas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Craniofaciais/genética , Deformidades Congênitas da Mão/genética , Humanos , Lactente , Deficiência Intelectual/genética , Masculino , Unhas Malformadas/genética
15.
Artigo em Inglês | MEDLINE | ID: mdl-28583501

RESUMO

Diagnosis of Hartsfield syndrome includes recognition of three distinct clinical anomalies: holoprosencephaly, ectrodactyly, and bilateral cleft-lip and palate syndrome. A family including three male siblings all affected by Hartsfield syndrome presented to our institution for care. An autosomal dominant variant in Fibroblast Growth Factor Receptor 1 (FGFR1) was identified. This report focuses on otorhinolaryngologic manifestationsof Hartsfield syndrome, previously undescribed, including midline defects of holoprosencephaly, bilateral cleft-lip and palate, retrognathia, gastroesophageal reflux disease, external ear anomalies, eustachian tube dysfunction, and midface abnormalities, in addition to multidisciplinary, long-term management strategies. Multidisciplinary management is imperative in the care of these children with modification of approach based on their medical complexity.


Assuntos
Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Dedos/anormalidades , Deformidades Congênitas da Mão/diagnóstico , Holoprosencefalia/diagnóstico , Deficiência Intelectual/diagnóstico , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Criança , Pré-Escolar , Fenda Labial/terapia , Fissura Palatina/terapia , Deformidades Congênitas da Mão/terapia , Holoprosencefalia/terapia , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/terapia , Masculino , Mutação , Irmãos
16.
J Pathol ; 243(1): 9-15, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28608987

RESUMO

SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas inactivating mutations, leading to loss of SMARCA4 expression, have been exclusively found in SCCOHT. We applied whole-exome sequencing to study a 15-year-old patient with mild CSS who concomitantly developed SCCOHT at age 13 years. Interestingly, our patient also showed congenital microphthalmia, which has never previously been reported in CSS patients. We detected a de novo germline heterozygous nonsense mutation in exon 19 of SMARCA4 (c.2935C > T;p.Arg979*), and a somatic frameshift mutation in exon 6 (c.1236_1236delC;p.Gln413Argfs*88), causing complete loss of SMARCA4 immunostaining in the tumour. The immunohistochemical findings are supported by the observation that the c.2935C > T mutant transcript was detected by reverse transcription polymerase chain reaction at a much lower level than the wild-type allele in whole blood and the lymphoblastoid cell line of the proband, confirming nonsense-mediated mRNA decay. Accordingly, immunoblotting demonstrated that there was approximately half the amount of SMARCA4 protein in the proband's cells as in controls. This study suggests that SMARCA4 constitutional mutations associated with CSS are not necessarily non-truncating, and that haploinsufficiency may explain milder CSS phenotypes, as previously reported for haploinsufficient ARID1B. In addition, our case supports the dual role of chromatin remodellers in developmental disorders and cancer, as well as the involvement of SMARCA4 in microphthalmia, confirming previous findings in mouse models and the DECIPHER database. Finally, we speculate that mild CSS might be under-recognized in a proportion of SCCOHT patients harbouring SMARCA4 mutations. © 2017 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.


Assuntos
Anormalidades Múltiplas/genética , Biomarcadores Tumorais/genética , Carcinoma de Células Pequenas/genética , Códon sem Sentido , DNA Helicases/genética , Face/anormalidades , Mutação da Fase de Leitura , Deformidades Congênitas da Mão/genética , Hipercalcemia/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Microftalmia/genética , Pescoço/anormalidades , Proteínas Nucleares/genética , Neoplasias Ovarianas/genética , Fatores de Transcrição/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/metabolismo , Adolescente , Biomarcadores Tumorais/análise , Western Blotting , Carcinoma de Células Pequenas/química , Carcinoma de Células Pequenas/diagnóstico , DNA Helicases/análise , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/metabolismo , Heterozigoto , Humanos , Hipercalcemia/diagnóstico , Hipercalcemia/metabolismo , Imuno-Histoquímica , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/metabolismo , Masculino , Micrognatismo/diagnóstico , Micrognatismo/metabolismo , Microftalmia/diagnóstico , Microftalmia/metabolismo , Pessoa de Meia-Idade , Proteínas Nucleares/análise , Neoplasias Ovarianas/química , Neoplasias Ovarianas/diagnóstico , Linhagem , Fenótipo , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Fatores de Transcrição/análise
17.
Plast Reconstr Surg ; 139(6): 1422-1429, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28538570

RESUMO

BACKGROUND: Patient- and parent-reported outcomes are increasingly considered as measures of treatment effectiveness for congenital conditions. The authors' specific aim was to review the use of patient- and parent-reported outcomes of quality of life, activities of daily living, perception of hand appearance, and satisfaction after reconstruction for congenital hand differences. METHODS: The authors reviewed articles addressing congenital hand differences from PubMed, MEDLINE, and EMBASE published between January of 1966 and October of 2016. The authors excluded studies that did not include reconstruction or lacked patient- or parent-reported outcomes. Investigators reviewed 48 studies and extracted the following: study type, level of evidence, type of congenital hand differences, sample size, procedure performed, length of follow-up, and domains and results of patient-satisfaction questionnaires. RESULTS: Multiple studies across several types of congenital hand differences showed that a majority of patients and parents report improvements and are satisfied with postoperative outcomes. However, there were several patient cohorts (e.g., thumb duplication, thumb hypoplasia, radial longitudinal deficiency) who expressed dissatisfaction with outcomes and continue to experience decreased health-related quality of life. CONCLUSIONS: Overall, patient satisfaction and reports of health-related quality of life among children with congenital hand differences are favorable. Patients seem to cope and adapt well, but teasing and social relationships remain problematic, particularly as children enter school. This article highlights addressing these concerns before embarking on reconstruction.


Assuntos
Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/cirurgia , Qualidade de Vida , Procedimentos Cirúrgicos Reconstrutivos/métodos , Autorrelato , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Pais/psicologia , Satisfação do Paciente/estatística & dados numéricos , Resultado do Tratamento
18.
Ortop Traumatol Rehabil ; 19(1): 75-78, 2017 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-28436373

RESUMO

FATCO syndrome consists of fibular hemimelia, tibial campomelia and oligosyndactyly. FATCO syndrome can also be associated with other congenital anomalies; therefore, every case needs thorough evaluation so as to make the management of the patient easier. A few cases of this syndrome have been described in literature but only two cases have been reported in India so far. We present a 3-year-old male child born of a non-con-sanguinous marriage with FATCO syndrome and ipilateral talar aplasia without any other congenital anomalies.


Assuntos
Displasia Campomélica/diagnóstico , Displasia Campomélica/terapia , Fíbula/anormalidades , Dedos/anormalidades , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas do Pé/terapia , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/terapia , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/terapia , Doenças Raras/diagnóstico , Doenças Raras/terapia , Sindactilia/diagnóstico , Sindactilia/terapia , Tíbia/anormalidades , Dedos do Pé/anormalidades , Displasia Campomélica/fisiopatologia , Pré-Escolar , Fíbula/fisiopatologia , Dedos/fisiopatologia , Deformidades Congênitas do Pé/fisiopatologia , Deformidades Congênitas da Mão/fisiopatologia , Humanos , Índia , Deformidades Congênitas dos Membros/fisiopatologia , Masculino , Sindactilia/fisiopatologia , Tíbia/fisiopatologia , Dedos do Pé/fisiopatologia , Resultado do Tratamento
19.
Am J Med Genet A ; 173(6): 1694-1697, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28422407

RESUMO

Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation. Postmortem radiographs showed hypoplasia and V-shaped displacement of the second and third proximal phalanges of both hands as well as hypoplasia of the first metatarsals and the phalangeal bones of the halluces. The suggested diagnosis Catel-Manzke syndrome was confirmed by the detection of two compound heterozygous mutations in TGDS: The known variant c.298G>T; p.(Ala100Ser) and the so far undescribed variant c.895G>A; p.(Asp299Asn), located in the predicted substrate binding site of TGDS. This is the first report on the association of mutations in TGDS with additional anomalies of the middle fingers and halluces. We provide a detailed phenotypic characterization of the only fetus with molecularly confirmed Catel-Manzke syndrome, which is relevant for prenatal diagnosis. Our findings widen the phenotype spectrum caused by TGDS mutations and underline the phenotypic overlap with Temtamy preaxial brachydactyly syndrome. This improves our understanding of the prenatal development and the pathogenetic mechanism of Catel-Manzke syndrome.


Assuntos
Anormalidades Múltiplas/genética , Deformidades Congênitas da Mão/genética , Cardiopatias Congênitas/genética , Hidroliases/genética , Síndrome de Pierre Robin/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/fisiopatologia , Braquidactilia/diagnóstico , Braquidactilia/genética , Braquidactilia/fisiopatologia , Surdez/diagnóstico , Surdez/genética , Surdez/fisiopatologia , Feminino , Feto/fisiopatologia , Dedos/anormalidades , Dedos/fisiopatologia , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/fisiopatologia , Cardiopatias Congênitas/fisiopatologia , Heterozigoto , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Anormalidades da Boca/diagnóstico , Anormalidades da Boca/genética , Anormalidades da Boca/fisiopatologia , Mutação , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/fisiopatologia , Gravidez , Diagnóstico Pré-Natal , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/genética , Anormalidades Dentárias/fisiopatologia
20.
J Craniofac Surg ; 28(2): e126-e127, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28234639

RESUMO

Laurin-Sandrow syndrome (LSS) is a rare autosomal disorder characterized by polysyndactyly of the hands and feet in a mirror fashion, absence of the radius and tibia with duplicated ulna and fibula, and nasal anomalies. Nasal defects are varied, and range from hypoplastic nasal skeleton to redundant nasal tissue, along with abnormalities of nasal subunits. Only 14 patients of LSS have been described in the literature. The authors present a unique case of a newborn with LSS and anterior nasal stenosis, resulting in respiratory failure. Early surgical intervention to relieve the bony and soft tissue overgrowth of the anterior nasal vault was required to allow for successful extubation.


Assuntos
Anormalidades Múltiplas/diagnóstico , Ectromelia/diagnóstico , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas da Mão/diagnóstico , Nariz/anormalidades , Nariz/cirurgia , Feminino , Humanos , Recém-Nascido , Tempo para o Tratamento
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