Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers

Johnson, John P.; Carey, John C.; Gooch, W. Manford; Petersen, Joseph L.; Beattie, James F.

doi:10.1016/s0022-3476(83)80013-4

Cited by 90 publications

(81 citation statements)

References 24 publications

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“…A phal lus was noted, and the fetus was determined to be a male, however the testes could not be visualized. Because of the known association between FH-UFS and maternal diabetes mellitus [1], fasting blood glu cose and a glucose tolerance test were performed to rule out gestational diabetes mellitus. Both were nor mal.…”

Section: Case Reportmentioning

confidence: 99%

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Femoral Hypoplasia – Unusual Facies Syndrome: Prenatal Ultrasonographic Observations

Tadmor

Hammerman²,

Rabinowitz³

et al. 1993

Fetal Diagn Ther

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FH-UFS is a rare syndrome characterized by bilateral femoral hypoplasia, together with facial dysmorphism. To the best of our knowledge, this is the first report describing prenatal ultrasonographic findings and in utero growth pattern of an infant with FH-UFS. Via analysis of our data it appears that the growth of the femur in our case was normal until the 24th week of pregnancy, at which time some in-utero insult occurred, resulting in temporarily arrested femoral growth. From the 34th week of pregnancy onward femoral growth rates returned to normal. We assume, therefore, that the etiology of FH-UFS is multifactorial. Only a combination of some hereditary proclivity, together with an intrauterine insult (possibly viral) could explain the appearance in the same fetus of cleft palate, developing at the 7th week of gestation, and a time-specific (25–32 weeks) disturbance of femoral growth.

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Section: Case Reportmentioning

confidence: 99%

“…A review of the literature dis closed 55 previously published cases [1,[3][4][5][6][7][8][9][10][11][12], none of which was diagnosed prenatally, nor were ultrasound studies in utero referred to in any of the reports.…”

mentioning

confidence: 99%

Femoral Hypoplasia – Unusual Facies Syndrome: Prenatal Ultrasonographic Observations

Tadmor

Hammerman²,

Rabinowitz³

et al. 1993

Fetal Diagn Ther

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“…Femoral hypoplasia-unusual facies syndrome is a highly associated with infants of diabetic mothers. 7 This syndrome is also called diabetic phocomelia, and consists of severe femoral hypoplasia bilaterally, cleft palate, hypoplasia of the ala nasi and a long philtrum. Approximately 38% of patients with this condition are known to be infants of diabetic mothers.…”

Section: Denouement and Discussionmentioning

confidence: 99%

“…Approximately 38% of patients with this condition are known to be infants of diabetic mothers. 7 Sirenomelia is a very rare condition of fusion of the lower extremities into a single limb, and variable lumbosacral agenesis. Sirenomelia is most frequently associated with monozygotic twining or other anomalies suggesting the VACTERL association.…”

Section: Denouement and Discussionmentioning

confidence: 99%

Type IV lumbosacrococcygeal agenesis infant of diabetic mother

Herman

Siegel

2008

J Perinatol

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“…Three of these infants had intercalary defects of the femur or tibiae. One had additional anomalies of the vertebrae, a pattern that is well recognized as occurring in conjunction with maternal diabetes mellitus and described as caudal regression or unusual-facies-femoral hypoplasia syndrome (9). In one case, defects of the toes and a VSD were found in addition.…”

Section: Chronic Maternal Diseasesmentioning

confidence: 95%

Maternal factors, medications, and drug exposure in congenital limb reduction defects.

Froster

Baird

1993

Environ Health Perspect

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As part of an ongoing study on all limb reduction defects occurring among 1,213,913 consecutive live births in the province of British Columbia, Canada, during 1952-1984, cases with documented maternal drug exposure and chronic maternal diseases were analyzed separately. This population-based study was made possible through the existence of an ongoing Health Surveillance Registry, which documents all infants born with congenital, genetic, or chronically handicapping conditions in the province of British Columbia. Strict rules of confidentiality are obeyed. For this part of the analysis of limb reduction defects, cases with documented maternal illness, drug abuse, and exposure to environmental hazards early in pregnancy were analyzed as a separate group to identify specific, recurring patterns of anomalies. A total of 51 cases with possibly related maternal factors were identified. Among them were five cases with maternal epilepsy, four cases with documented maternal diabetes, and three cases with uterine anomalies. Three infants, all born in 1962, had documented thalidomide exposure. It is rarely possible to identify particular teratogenic factors or specific maternal factors as etiologically related to the pattern of limb reduction defects or a spectrum of congenital malformations. Exposure to environmental factors during pregnancy is not reliably registered and can thus only occasionally be ascertained in retrospective studies. This means that very large numbers of cases and cross-referencing to other family members are required to assess whether a potential teratogen is related to limb defects or not.

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Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers

Cited by 90 publications

References 24 publications

Femoral Hypoplasia – Unusual Facies Syndrome: Prenatal Ultrasonographic Observations

Femoral Hypoplasia – Unusual Facies Syndrome: Prenatal Ultrasonographic Observations

Type IV lumbosacrococcygeal agenesis infant of diabetic mother

Maternal factors, medications, and drug exposure in congenital limb reduction defects.

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