Femoral hypoplasia- Unusual Facies Syndrome or Femoral Facial Syndrome with Radioulnar Synostosis

Naher, Begum Sharifun

doi:10.3329/bjch.v38i1.20028

Cited by 3 publications

(2 citation statements)

References 8 publications

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“…The type of heart defects most commonly reported in children from diabetic mothers are ventricular septal defect (28%), transposition of the great arteries (14.4%), and coarctation of the aorta (8.8%) (Wren et al, ; Zhao & Reece, ). Since the types of heart defects observed among the FFS patients were patent ductus arteriosus, pulmonary stenosis, atrial septal defect, and aortic insufficiency (Johnson et al, ; Naher, ; Riedel & Froster‐Iskenius, ), these differences could suggest that heart defects in these patients, in fact, should be part of the FFS phenotype.…”

Section: Discussionmentioning

confidence: 99%

Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair

Lacarrubba-Flores

Carvalho

Ribeiro

et al. 2018

American J of Med Genetics Pt A

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Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, cleft palate, and other minor dysmorphisms. The evaluation of 14 unpublished Brazilian patients, prompted us to make an extensive literature review comparing both sets of data. From 120 previously reported individuals with FFS, 66 were excluded due to: not meeting the inclusion criteria (n = 21); not providing sufficient data to ascertain the diagnosis (n = 29); were better assigned to another diagnosis (n = 3); and, being fetuses of the second trimester (n = 13) due to the obvious difficult to confirm a typical facies. Clinical-radiological and family information from 54 typical patients were collected and compared with the 14 new Brazilian patients. The comparison between the two sets of patients did not show any relevant differences. Femoral involvement was most frequently hypoplasia, observed in 91.2% of patients, and the typical facies was characterized by micrognathia (97%), cleft palate (61.8%), and minor dysmorphisms (frontal bossing 63.6%, short nose 91.7%, long philtrum 94.9%, and thin upper lip 92.3%). Clubfoot (55.9%) was commonly observed. Other observed findings may be part of FFS or may be simply concurrent anomalies since maternal diabetes is a common risk factor. While maternal diabetes was the only common feature observed during pregnancy (50.8%), no evidence for a monogenic basis was found. Moreover, a monozygotic discordant twin pair was described reinforcing the absence of a major genetic factor associated with FFS.

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Section: Discussionmentioning

confidence: 99%

Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair

Lacarrubba-Flores

Carvalho

Ribeiro

et al. 2018

American J of Med Genetics Pt A

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“…Os tipos de defeitos cardíacos mais comumente relatados em filhos de mães diabéticas são defeito do septo ventricular (28%), transposição das grandes artérias (14,4%) e coarctação da aorta (8,8%) (23,43). Visto que os tipos de defeitos cardíacos observados entre os pacientes com SFF foram PDA, estenose pulmonar, comunicação interauricular e insuficiência aórtica (3,9,64), é plausível supor que as malformações cardíacas descritas nos pacientes com SFF de fato façam parte do quadro.…”

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Síndrome fêmoro-facial

Flores¹

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Agradeço aos meus pais pelo apoio amor, carinho, paciência e pelo apoio desde a graduação em medicina até o presente momento. Todo este suporte vem sendo fundamental na minha trajetória dentro da vida acadêmica. Agradeço aos meus irmãos: Alina, Juan e Mariajose que mesmo à distância sempre se fizeram presentes expressando seu apoio de maneira fraternal e positiva. Eles são o grande suporte da minha vida. Agradeço à Profa. Dra. Denise Cavalcanti ou somente Denise, como ela gosta de ser chamada pelos alunos; por abrir-me "as portas" e ser a minha orientadora de pós-graduação. Sua experiência e vivência na área médica, especificamente em genética médica, tem-me possibilitado adquirir um grande conhecimento nesta área. Obrigada por convidar-me a ir mais longe, graças à sua ajuda e orientação. Agradeço ao Fernando Marson, pela disposição em colaborar com a análise estatística dos meus dados. Foi extremamente importante sua colaboração para o desenvolvimento deste trabalho. Agradeço aos amigos que fiz nestes três anos dentro da Unicamp e que amenizaram um pouco da saudade que eu sentia da minha família e do meu país (Paraguai). Vale aqui uma menção especial à Carolina Araujo Moreno que me ajudou muito quando cheguei ao Brasil, especificamente em Campinas. Obrigada Carol, pela atenção dada nos momentos difíceis, pelas inúmeras caronas e comidas compartilhadas. Obrigada pela infinita paciência para ouvir todos meus dramas e ter sempre uma sugestão prática. Obrigada Karina, Thatiane e Cynthia, parceiras do mesmo grupo de pesquisa no qual eu trabalho, pela boa disposição e alegria. Assim como outras amizades que fiz dentro do departamento,

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Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review

Luisin

Chevreau

Klein

et al. 2017

American J of Med Genetics Pt A

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Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia-unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but rare family observations suggest genetic origin. However, no chromosomal or genetic abnormalities have ever been incriminated. We conducted a comprehensive literature review and added three new unreported observations. Through these 92 cases, authors aimed to determine sonographic signs that should direct towards diagnosis, and discuss potential genetic etiology. Diagnosis was suspected prenatally in 27.2% of cases, and maternal diabetes was found in 42.4% of patients. When fetal karyotype was available, it was normal in 97.1% of cases, but genomic variations of unknown significance were discovered in all three cases in which array comparative genomic hybridization (CGH) techniques were applied. Femoral affection defining FFS was hypoplasia in 78.3% of cases, agenesis in 12%, and both in 9.8%. Affection was bilateral in 84.8% of cases. Retrognathia was present in 65.2% of cases, cleft lip and/or palate in 63%, and other organ malformations in 53.3%. Intellectual development was normal in 79.2% of cases. Better prenatal recognition of this pathology, notably frequently associated malformations, should lead to a more precise estimation of functional prognosis. It seems likely that today's tendency to systematically employ array-CGH and exome/genome sequencing methods to investigate malformative sequences will allow the identification of a causal genetic abnormality in the near future.

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Femoral hypoplasia- Unusual Facies Syndrome or Femoral Facial Syndrome with Radioulnar Synostosis

Abstract: DOI: http://dx.doi.org/10.3329/bjch.v38i1.20028 Bangladesh J Child Health 2014; VOL 38 (1) : 48-50

Cited by 3 publications

References 8 publications

Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair

Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair

Síndrome fêmoro-facial

Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review

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