Femoral Hypoplasia with Unusual Facies Syndrome

Shenoy, Sreekanth R; Mondal, Dodul; Upadhyay, Manas Ranjan; Gupta, Bhupendra; Mahar, Jatadhari

doi:10.7860/jcdr/2017/27632.10481

Cited by 5 publications

(15 citation statements)

References 7 publications

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“…Although 120 patients reported in the literature as FFS were identified, only 54 were considered appropriate to be included in this work. (Ahmed et al, ; Aksoy et al, ; Alao et al, ; Burck et al, ; Düzcan et al, ; Garcia et al, ; Giacoia & Tunnessen, ; Goldberg et al, ; Graviss et al, ; Ho et al, ; Leal et al, ; Lomo & Headings, ; Manohar, ; Palit et al, ; Poon et al, ; Shenoy et al, ; Squiers et al, ; the remainder references appear throughout the text. Besides, all the references are in table 1 of Supplemental materia)…”

Section: Resultsmentioning

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 The evaluation of 14 unpublished Brazilian patients, prompted us to make an extensive literature review comparing both sets of data.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: Resultsmentioning

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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“…13 Other conditions which closely resembles to FH-UFS are caudal dysgenesis or sironemelia. 1,12,14 This condition is characterized by urogenital and lower limb malformations, but craniofacial anomalies are always absent. Our patient had characteristic facial defects like cleft lip and palate, retrognathia and low set ears which differentiated it from sirenomelia.…”

Section: Case Reportmentioning

confidence: 99%

Femoral hypoplasia-unusual facies syndrome: a rare clinical entity

Lichade

Wade

Gandhi

et al. 2018

Int J Contemp Pediatr

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Femoral hypoplasia-unusual facies syndrome (FH-UFS) is a disorder with multisystem involvement comprising predominantly of craniofacial dysmorphism with bilateral hypoplastic femurs. The exact etiology of this disorder is unknown, however maternal infections, drug and radiation exposure, oligohydramnios has been implicated. In affected children born to non-diabetic mothers, a genetic contribution is suspected; however, no chromosomal or gene mutations have been identified so far. The syndrome closely resembles with caudal dysplasia or syringomyelia which occur due to insufficient mesoderm in the caudal part of the embryo leading to lumbosacral defects, renal agenesis, and dysplastic lower limbs, however they lack craniofacial dysmorphism. The pathogenesis of FH-UFS involves poor development of subtrochanteric portion of the femoral cartilage. This results in shortening of proximal femur. Maternal diabetes justifies the teratogenic effect of hyperglycemia and ketones on fetus leading to dysmorphic features in fetus. Here, we are reporting a female neonate with characteristic phenotypic features of FH-UFS. She had cleft lip and palate, low set ears, retrognathia and micrognathia, dolichocephaly with bilateral femoral hypoplasia with talipes deformity of both feet. Karyotype was normal (46XX). Renal and cranial ultrasounds were normal. The 2D Echo revealed small 0.3mm PDA.

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“…Although some cases describe the cause of death to be termination of the pregnancy [ 4 , 13 ], others describe that death can occur shortly prior to and after birth [ 9 ]. It is possible that early fetal and infant deaths were complications caused by maternal diabetes, oligohydramnios, or an unknown risk factor associated with FFS [ 3 , 5 , 12 ]. It is unknown if there have been reported deaths in toddlers who have FFS as case reports primarily describe orthopedic and psychosocial complications [ 1 , 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Two instances were of intestinal malrotation, in one instance a 31-week-old male had a medially located appendix, the other was discovered during neonatal autopsy described as a patient born without a rectum or anus in which the blind-ended sigmoid colon was attached to the uterus. However, the upper gastrointestinal tract was noted as normal [ 12 ]. A third case reported was of a newborn with characteristic features who later developed GERD [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

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First Reported Case of Femoral Facial Syndrome in an Adult: Esophageal Adenocarcinoma as a Progressive Gastrointestinal Manifestation

Reyes¹,

Young²,

Torres³

2022

Cureus

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A 42-year-old female with a past medical history of femoral facial syndrome (FFS) and years of gastroesophageal reflux disease presented to our clinic with symptoms of dysphagia and iron deficiency anemia. On upper endoscopy, esophageal stricture and adenocarcinoma were detected. Unfortunately, the patient developed coronavirus disease 2019 (COVID-19) multi-organ failure prior to cancer treatment and died with dignity after choosing comfort care measures. To the best of our knowledge, we report the first case of FFS in an adult patient. This case also uniquely highlights the rare gastrointestinal manifestations of FFS.

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Femoral Hypoplasia with Unusual Facies Syndrome

Cited by 5 publications

References 7 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

Femoral hypoplasia-unusual facies syndrome: a rare clinical entity

First Reported Case of Femoral Facial Syndrome in an Adult: Esophageal Adenocarcinoma as a Progressive Gastrointestinal Manifestation

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