Bilateral Femoral Hypoplasia and Maternal Diabetes Mellitus: Case Report and Review of the Literature

Hitti, Ibrahim F.; Glasberg, Sidney S.; Huggins-Jones, Dawn; Sabet, Reza

doi:10.3109/15513819409023331

Cited by 11 publications

(7 citation statements)

References 7 publications

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“…Findings by Hitti et al (1994) lend further support to this theory, with an intriguing discussion of macroscopic and microscopic aspects of femoral bowing and shortening in a fetus. Macroscopically, the deformity is bilateral and symmetrical in appearance, affects the middle of the diaphysis, and is not associated with other anomalies.…”

Section: Differential Diagnosismentioning

confidence: 76%

“…This scenario, rather than an early bilateral fracture, represents a more likely cause of the Sunghir 3 femoral deformities, and provides a better explanation of their localized, symmetrical appearance. Interestingly, Hitti et al (1994) suggested a link between the observed inhibition of chondrogenesis shown by the fetus and the diabetic condition of the mother. Experimental observations and clinical data demonstrated that abnormal glucose levels are deleterious to cartilage development (Leonard et al, 1989), and that infants of diabetic mothers are subject to delayed ossification and skeletal defects, especially in bones of endochondral ossification (Kucera, 1971; Jovanovic et al, 1986).…”

Section: Differential Diagnosismentioning

confidence: 99%

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Double child burial from sunghir (Russia): Pathology and inferences for upper paleolithic funerary practices

Formicola

Бужилова

2003

American J Phys Anthropol

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The double child burial from Sunghir (Russia) is a spectacular Mid Upper Palaeolithic funerary example dated to about 24,000 BP. A boy (Sunghir 2) and a girl (Sunghir 3), about 12-13 and 9-10 years old, respectively, were buried at the same time, head to head, covered by red ocher and ornamented with extraordinarily rich grave goods. Examination of the two skeletons reveals that the Sunghir 3 femora are short and exhibit marked antero-posterior bowing. The two femora do not show any asymmetry in the degree of shortening and bowing. Bowing affects the whole diaphysis and shows a regularly incurved profile, with the highest point at midshaft. Pathology is confined to the femora, and no other part of this well-preserved specimen shows abnormality. The isolated nature of the Sunghir 3 anomalies points to cases reported in the medical literature under the label of "congenital bowing of long bones" (CBLB). These are a group of rare conditions exhibiting localized, sometimes bilateral, bowing and shortening which are nonspecific and may result from different causes, including abnormalities of the primary cartilaginous anlage (i.e., the aggregation of cells representing the first trace of an organ). Localized ossification disturbances, possibly linked to a diabetic maternal condition, might explain the shortening and the coincidence of maximum midshaft curvature with the position of the primary ossification center, as well as the lack of involvement of other skeletal parts. This scenario, rather than other possibilities (early bilateral midshaft fracture, acute plastic bowing deformities, or faulty fetal posture), provides the most likely explanation for the Sunghir 3 femoral deformities. The intriguing combination of a pathological condition apparent since birth with a spectacular burial of unusually positioned young individuals of different sexes recalls significant aspects of the triple burial from the contemporary site of Dolní Vestonice (Moravia), evoking a patterned relationship between physical abnormality and extraordinary Upper Paleolithic funerary behavior.

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Section: Differential Diagnosismentioning

confidence: 76%

Section: Differential Diagnosismentioning

confidence: 99%

Double child burial from sunghir (Russia): Pathology and inferences for upper paleolithic funerary practices

Formicola

Бужилова

2003

American J Phys Anthropol

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“…Hitti et al, 7 were the first to present a detailed histopathological examination of aborted fetus with congenital femoral hypoplasia of a diabetic mother. 7 The primitive mesenchyme cells derived from the lateral plate are destined to form the skeleton and tendons of the lower limb through transformation to a cartilaginous model that can undergo endochondralossification to form the tubular shape of the femur.…”

Section: Discussionmentioning

confidence: 99%

“…7 The primitive mesenchyme cells derived from the lateral plate are destined to form the skeleton and tendons of the lower limb through transformation to a cartilaginous model that can undergo endochondralossification to form the tubular shape of the femur. Hitti et al, 7 showed that at certain segment or focus of the diaphysis of the growing femur during embryogenesis the mesenchyme cells skip the cartilaginous transformation and get transformed into bone directly through intermembraneous ossification, this bony part is more or less flat, lacking the normal tubular architecture of the rest of femur, hence the name focal femoral deficiency. It is known that the cartilaginous development is sensitive to the level of glucose, 8 the abnormal glucose level selectively inhibit cartilage-specific proteoglycan core protein gene.…”

Section: Discussionmentioning

confidence: 99%

DM & Congenital Proximal Femur Hypoplasia: Is There a Link or Association

Essam¹

2017

MOJCR

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We present a case of congenital short femur with scleredema Diabeticorum (SD) in a patient with diabetic neuropathy with unusual skin lesion distribution. Gait symptoms progressively worsened. The atypical distribution of the skin lesions is quite unusual. This case express rare complications of diabetes mellitus in two faces, first the maternal diabetes which had disrupted in part the development of skeletal system of the offspring who in turn developed a rare dermatologic complications i.e. SD. This case will leave inedible memory for every diabetologist not to miss the skeletal and dermatologic manifestations of DM. The combination of this congenital proximal femoral hypoplasia with complicating diabetes makes the question if there is a link with similar genetic predilection or just an association.

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“…Since there is a frequent overlap of clinical manifestations, it has been suggested that short femur is a part of a developmental field defect including femur-fibula-ulna syndrome, fibula aplasia-hypoplasia, and femoral hypoplasia/unusual syndrome [11]. Other possible etiological factors are maternal diabetes mellitus, drugs such as thalidomide, radiation, focal ischemia, or trauma occurring between the 4th and 8th weeks of gestation [1,12,13].…”

Section: Discussionmentioning

confidence: 99%

A Case of Congenital Familial Short Femur Diagnosed Prenatally

Makino¹,

Inoue

Shirota³

et al. 1998

Fetal Diagn Ther

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A fetus at 24 weeks of gestation had been suspected of congenital familial bilateral short femur. The Japanese mother, 41 years old and 139 cm in height presented with bilateral short femur herself. The mother had two affected aunts and one affected daughter in her family history. Ultrasound examination was given to the mother for the first time at 24 weeks of gestation and it revealed bilateral short femur of 30 mm in length on the right and 31 mm on the left femur of the fetus. Other examinations were entirely normal and the pregnancy resulted in a full-term spontaneous vaginal delivery to a male baby. Birth weight was 2,790 g and the 1 and 5 min Apgar scores were at 8 and 10. Diagnosis was confirmed by skeletal radiographs.

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Bilateral Femoral Hypoplasia and Maternal Diabetes Mellitus: Case Report and Review of the Literature

Cited by 11 publications

References 7 publications

Double child burial from sunghir (Russia): Pathology and inferences for upper paleolithic funerary practices

Double child burial from sunghir (Russia): Pathology and inferences for upper paleolithic funerary practices

DM & Congenital Proximal Femur Hypoplasia: Is There a Link or Association

A Case of Congenital Familial Short Femur Diagnosed Prenatally

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