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FEMORAL HYPOPLASIA Parents Group FEMORAL HYPOPLASIA Syndrome Description The syndrome is very rare. There are twenty one cases mentioned in the medical literature in the United States and fifty two world-wide. The syndrome is variously known as FEMORAL FACIAL SYNDROME or UNUSUAL FACIES SYNDROME or FEMORAL HYPOPLASIA which causes some confusion for medical researchers. The syndrome is the result of a combination of a paternal autosomal genetic predisposition and a maternal gestational hyperglycemic condition. Many of the mothers are never aware of the hyperglycemic condition if it is only temporary, it need only be present at the sixth week to contribute to the syndrome. The damage occurs at about the sixth week of gestation when the high levels of blood sugar interact with the impaired amino acid polypeptide from the father's gene for certain connective tissue development. This protein is not allowed to perform its function properly resulting in a series of structural malformations and hypoplasias. Consequently, all of the characteristics of the syndrome involve connective tissues, connective structures, and subsequent development based on these structures. The geneticists have not done the research to isolate the individual gene partly responsible for the syndrome only because the effected number of patients is so small and there is other research that would help more people. The syndrome ranges in severity from mild to lethal. Many of the cases are diagnosed after the fetus has died in the womb. The syndrome is generally much more sever in girls than boys. The least sever case would show some underdevelopment of the femurs. The most sever cases would show: minor malformations of the toes, ankles turned out, absent or shortened femurs, absent or undescended or underdeveloped testes, absent or malformed lower abdominal organs and structures, malformed lower spine, malformed gastroesophageal sphincter, malformation of cardiac muscle structures including holes in the heart, various deformities of the sinuses, the pharynx, the esophagus, and the trachea, small lower jaw, shortened tongue, cleft palate, thin upper lip, external ear deformities, eye muscle deformities. Some of the symptoms and conditions caused by these malformations include: gross motor impairment of the lower extremities, fine motor impairment including speech, and writing, gastroesophageal reflux, obstructive sleep apnea, scoliosis, strabismus.

references:

1: Clin Imaging 2003 Jan-Feb;27(1):23-6

Femoral-facial syndrome with malformations in the central nervous system.

Leal E, Macias-Gomez N, Rodriguez L, Mercado FM, Barros-Nunez P.

Centro de Investigacion Biomedica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.

The femoral hypoplasia-unusual facies syndrome (FFS) is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. We report the second case of FFS with anomalies in the central nervous system (CNS) including corticosubcortical atrophy, colpocephaly, partial agenesis of corpus callosum, hypoplasia of the falx cerebri and absent septum pellucidum. The psychomotor development has been normal. We propose that the CNS defects observed in these patients are part of the spectrum of abnormalities in the FFS.

PMID: 12504316 [PubMed - in process]

2: Am J Med Genet 1997 Oct 31;72(3):315-8

Bilateral femoral agenesis in femoral facial syndrome in a 19-week-old fetus.

Campbell F, Vujanic GM.

Department of Histopathology, University of Wales College of Medicine, Cardiff, United Kingdom.

Although the cause in most cases is unknown, there is a strong association of the femoral facial syndrome (FFS) with maternal diabetes mellitus. We describe an unusual presentation of FFS in the first pregnancy of a diabetic mother terminated at 19 weeks gestation because of bilateral femoral agenesis diagnosed on ultrasound scan. Autopsy confirmed the absence of the femora and acetabula and the presence of the facial traits of FFS in a female fetus.

PMID: 9332661 [PubMed - indexed for MEDLINE]

3: J Med Genet 1997 Jun;34(6):518-9

Lethal femoral-facial syndrome: a case with unusual manifestations.

Gillerot Y, Fourneau C, Willems T, Van Maldergem L.

Centre de Genetique Humaine, Institut de pathologie et de Genetique, Loverval, Belgium.

The femoral-facial syndrome is a very rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and a peculiar facies. We report an additional observation detected by ultrasound at 25 weeks and diagnosed at birth. In addition to the malformations usually described in this syndrome, there were heterotopias of the brain, partial agenesis of the corpus callosum, bilobed lungs, intestinal malrotation, and vertebral segmentation defects.

PMID: 9192278 [PubMed - indexed for MEDLINE]

4: Am J Perinatol 1996 Oct;13(7):433-6

Femoral hypoplasia and maternal diabetes: consider femoral hypoplasia/unusual facies syndrome.

Hinson RM, Miller RC, Macri CJ.

Department of Pediatrics, National Naval Medical Center, Bethesda, Maryland, USA.

Femoral hypoplasia/unusual facies syndrome (FH/UFS) is a rarely considered clinical entity that has a strong association with maternal diabetes. A case that demonstrates the prenatal morphologic and biometric abnormalities, and postnatal findings are presented. The pathogenesis and natural history of FH/UFS is discussed and contrasted with the caudal dysplasia syndrome.

PMID: 8960613 [PubMed - indexed for MEDLINE]

5: Ann Pediatr (Paris) 1989 Dec;36(10):693-6

Femoral hypoplasia--unusual facies syndrome

[Article in French]

Trabelsi M, Monastiri K, Hammami A, Touzi C, Ben Hariz M, Gharbi HA, Bennaceur B.

We report a new case of femoral hypoplasia-unusual facies syndrome (FH-UFS). A review of the literature disclosed fifty-five previously published cases. Both boys and girls can be affected. The syndrome includes bilateral femoral hypoplasia; facial dysmorphism with a cleft palate, micrognathia, a long philtrum, a thin upper lip, and a short broad-tipped nose; dysplasia of the hips; and hypoplasia of the fibulae. Other malformations may be found, including skeletal defects and visceral (especially cardiovascular and genitourinary) abnormalities. Etiopathogenesis of this syndrome remains unknown. Some investigators have suggested a link between the FH-UFS and caudal dysplasia in infants born to diabetic mothers.

PMID: 2624385 [PubMed - indexed for MEDLINE]

6: J Med Genet 1996 Feb;33(2):165-7

Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

Sabry MA, Obenbergerova D, Al-Sawan R, Saleh QA, Farah S, Al-Awadi SA, Farag TI.

Medical Genetics Centre, Maternity Hospital, Kuwait.

A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia.

Publication Types:

Review

Review of Reported Cases

PMID: 8929957 [PubMed - indexed for MEDLINE]

7: Pediatr Pathol 1986;5(1):1-8

Femoral hypoplasia-unusual facies syndrome: autopsy findings in an unusual case.

DePalma L, Duray PH, Popeo VR.

Femoral hypoplasia-unusual facies syndrome comprises malformations of the skeletal system consisting of shortened or absent bilateral femurs, variable bony sacral abnormalities, bilateral talipes equinovarus, and an unusual facies consisting of low-set ears with soft cartilage of the helix, up-slanting palpebral fissures, shortened nose, blunt alae nasi, elongated philtrum, and a thin upper lip. Inferiorly placed kidneys and a septated urinary bladder have also been reported, along with cardiovascular and gastrointestinal abnormalities such as esophageal reflux. The cause and pathogenesis are believed to be multifactorial and probably not inherited. We report the case of a newborn infant with visceral abnormalities not previously recognized in this complex: polysplenia, superiorly placed adrenals at the muscular diaphragms, a single pelvic kidney located in the uterosacral ligament, and anorectal agenesis with the colon ending in a blind pouch above the uterus.

PMID: 3725704 [PubMed - indexed for MEDLINE]

8: J Med Genet 1984 Oct;21(5):331-40

The femoral hypoplasia-unusual facies syndrome.

Burn J, Winter RM, Baraitser M, Hall CM, Fixsen J.

A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome. One was attributable to severe fetal constraint secondary to oligohydramnios, three were associated with maternal diabetes, and two were idiopathic. All thirteen cases were sporadic.

PMID: 6502648 [PubMed - indexed for MEDLINE]

9: Lijec Vjesn 1991 Sep-Oct;113(9-10):324-6

The femoral hypoplasia syndrome and unusual facies in an infant of a diabetic mother

[Article in Serbo-Croatian (Roman)]

Dumic M, Vukovic J, Radica A, Granic M, Car N, Anticevic D.

Klinika za djecje bolesti, KBC, Medicinski fakultet Sveucilista u Zagrebu.

One-month-old female infant of diabetic mother with the femoral hypoplasia--unusual facies syndrome is presented. At birth the characteristic facial pattern of long philtrum with thin upper lip, micrognathia and cleft palate was present. Both legs showed extreme shortening of the upper segments. X-rays showed numerous skeletal abberations including radioulnar synostosis of the right elbow, dysplastic sacrum and hypoplasia of the femurs, the right one more severe. Radiological findings also revealed abnormal left kidney's collecting system and absence of the right kidney. Possible contributing factors to the pathogenetic mechanism underlying the skeletal defects in infants of diabetic mothers are considered.

PMID: 1669627 [PubMed - indexed for MEDLINE]

10: J Pediatr 1983 Jun;102(6):866-72

Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers.

Johnson JP, Carey JC, Gooch WM 3rd, Petersen J, Beattie JF.

Three children with the femoral hypoplasia-unusual facies syndrome are described. Two had the characteristic facial pattern of upslanted palpebral fissures, long philtrum with thin upper lip, micrognathia, and hypoplastic alae nasi. The other, an infant girl who died within 24 hours after birth, had a cleft lip, which distorted some of the other features. She also had a cleft palate, as did one of the two older boys. All three children had ear defects, upper limb involvement, and rib, vertebral, lower extremity, and genitourinary tract abnormalities. The infant girl died of lung hypoplasia associated with dysplastic kidneys and widely patent ductus arteriosus. All three were infants of diabetic mothers, one mother having developed overt diabetes in the first trimester of pregnancy. A literature review of 36 reported cases of FH/UFS revealed 12 individuals who were IDMs, establishing a strong relationship of the syndrome with maternal diabetes. A multifactorial inheritance model fits with the reported patients, with the relationship to diabetes, and with the similarity of FH/UFS to caudal regression, another condition related to maternal diabetes.

PMID: 6854450 [PubMed - indexed for MEDLINE]

11: Clin Dysmorphol 1994 Jan;3(1):40-5

Femoral hypoplasia unusual facies syndrome with preaxial polydactyly.

Baraitser M, Reardon W, Oley C, Fixsen J.

Department of Clinical Genetics, Hospital for Sick Children, London, UK.

Preaxial polydactyly of the foot is an unusual feature in femoral hypoplasia unusual facies syndrome, having been recorded with certainty in only two previous reports. We now add a further two instances of this rare association and emphasize that this finding should not preclude the underlying syndromic diagnosis.

Publication Types:

Review

Review of Reported Cases

PMID: 8205325 [PubMed - indexed for MEDLINE]

12: Am J Med Genet 1997 Jul 11;71(1):76-9

Autopsy, radiographic, and prenatal ultrasonographic examination of a stillborn fetus with femoral facial syndrome.

Urban JE, Ramus RM, Stannard MW, Rogers BB.

Department of Pathology, The University of Texas Southwestern Medical School, Dallas, USA.

Femoral facial syndrome (FFS) is comprised of cleft palate, micrognathia, short or absent femora, and vertebral and genitourinary malformations. We report on a stillborn fetus with FFS delivered to a mother with gestational diabetes. Prenatal ultrasound examination showed abnormalities at 21 weeks of gestation; prior ultrasound findings were interpreted as normal. Long bone histology showed disorganization of the growth plate with a relative decrease in cartilaginous matrix and vacuolization and binucleation of the chondrocytes.

PMID: 9215773 [PubMed - indexed for MEDLINE]

13: Fetal Diagn Ther 1993 Jul-Aug;8(4):279-84

Femoral hypoplasia--unusual facies syndrome: prenatal ultrasonographic observations.

Tadmor OP, Hammerman C, Rabinowitz R, Fisher D, Itzchaki M, Aboulafia Y, Diamant YZ.

Department of Obstetrics, Shaarei Zedek Medical Center, Jerusalem, Israel.

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.

PMID: 7903145 [PubMed - indexed for MEDLINE]