Autosomal dominant inheritance of tibial meromelia. Report of a kindred

Clark, MW

doi:10.2106/00004623-197557020-00022

Cited by 40 publications

(19 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Parent to child transmission [15, 16] as well as families with multiple siblings affected [17] have been described. Clark [18], and Lenz [19, 20] suggested that tibial hemimelia was an autosomal dominant disorder, while autosomal recessive inheritance was described by Fried [21], Mahjlondji [22] and McKay [23]. In a breeding trial of Galloway cattle with tibial hemimelia, Ojo et al implicated homozygosity of a single autosomal recessive gene with variable expressivity and pleiotropic effects on various body systems [24].…”

Section: Introductionmentioning

confidence: 99%

Tibial hemimelia: New classification and reconstructive options

Paley¹

2016

Journal of Children's Orthopaedics

View full text Add to dashboard Cite

Tibial hemimelia is a rare congenital lower limb deficiency presenting with a wide spectrum of associated congenital anomalies, deficiencies and duplications. Reconstructive options have been limited, and the gold standard for treatment has remained amputation with prosthetic fitting. There is now a better understanding of the genetics, etiology and pathoanatomy of tibial hemimelia. Armed with this knowledge, I present here a new classification to guide treatment and prognosis and then discuss new treatment strategies and techniques for limb reconstruction based on this new classification scheme.

show abstract

Section: Introductionmentioning

confidence: 99%

Tibial hemimelia: New classification and reconstructive options

Paley¹

2016

Journal of Children's Orthopaedics

View full text Add to dashboard Cite

show abstract

“…Tibial hemimelia is sporadic in the majority of cases; however, familial cases have been reported (Clark 1975;Majewski et al 1985;Richieri-Costa et al 1987a). In most reported families, the disorders follow an autosomal dominant pattern of inheritance, although they demonstrate great variability and reduced penetrance.…”

Section: Introductionmentioning

confidence: 99%

A pair of sibs with tibial hemimelia born to phenotypically normal parents

et al. 2003

View full text Add to dashboard Cite

Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. Tibial hemimelia is identified as a solitary disorder, or a part of more complex malformation syndromes. Although the majority of cases with tibial hemimelia are sporadic, affected families with possible autosomal dominant or autosomal recessive inheritance have been reported. Here we report a pair of sibs, 6-and 2-year-old Japanese boys, with tibial hemimelia born to unrelated, phenotypically normal parents. The type of tibial hemimelia and associated malformations of hands and feet was quite different between the brothers. The elder brother was compatible with the Gollop-Wolfgang complex, and the younger brother with tibial agenesisectrodactyly syndrome. Screening of mutation by direct sequencing of candidate genes including Sonic hedgehog, HOXD-11, and HOXD-12 was unable to identify a disease-causing mutation.

show abstract

“…Tibial deficiencies are associated with other skeletal abnormalities like developmental dysplasia of hip, proximal femoral focal dysplasia, coxa valga, and shortened femur [5,8,11,[13][14][15]19]. In hand, the most common deformity is lobster claw deformity, followed by thumb abnormalities, spinal abnormalities like hemivertebra or hypoplastic vertebra [19].…”

Section: Discussionmentioning

confidence: 99%

Bilateral congenital deficiency of tibia: A case report

Sharma

Yadav

Gupta

et al. 2014

Journal of Pediatric Rehabilitation Medicine

View full text Add to dashboard Cite

INTRODUCTION: Tibial hemimelia/amelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. They can be identified as an isolated disorder or as part of malformation syndromes. This presentation expands the spectrum of tibial hemimelia characterizing its great clinical and radiological variability. OBSERVATION: A five year old female child, born to unaffected and non-consanguineous parents, presented with deformity and shortening of both legs. There was no other structural anomaly except in both lower limbs. Radiological imaging showed absence of the tibia, angulation of fibula and tarsal coalition of right side. Femur was seen to be normal in both lower limbs while patella, tibia and talus were absent on left side along with 1 st ray deficiency. Severe varus deformity was seen in both feet. The parents were not willing for corrective surgery, therefore extension prosthesis was devised. DISCUSSION AND CONCLUSION: We report a case of tibial hemimelia as well as to suggest methods to manage and rehabilitate such patients. A congenital malformations surveillance and record system needs to be developed to identify the demographic parameters, etiology, risk factors and associations of all types of limb deficiencies. Need is felt of a classification system which includes broader spectrum of limb malformations.

show abstract

Autosomal dominant inheritance of tibial meromelia. Report of a kindred

Cited by 40 publications

References 0 publications

Tibial hemimelia: New classification and reconstructive options

Tibial hemimelia: New classification and reconstructive options

A pair of sibs with tibial hemimelia born to phenotypically normal parents

Bilateral congenital deficiency of tibia: A case report

Contact Info

Product

Resources

About