COMPLETE TIBIAL APLASIA WITH PREAXIAL POLYDACTYLY: A KINDRED OF AFFECTED INDIVIDUALS IN THREE GENERATIONS ,, Utpal Dan, *Kaustav Nayek, *Tarak Nath Ghosh, *Md. Shakil Akhtar Department Of Anatomy Burdwan Medical College & Hospital *Department Of Paediatrics Burdwan Medical College & Hospital

ABSTRACT

Tibial aplasia with polydactyly of hands and feet is a rare congenital anomaly, affecting both sexes ,with

reported prevalence between 5 and 19 per 10000 live births111• The molecular basis ofthis defect is unknown, and

autosomal dominant mode of inheritance12'3

'4

'5

'61 with variable expressivity is usually postulated.

The first case, more or less similar to the aforesaid phenotype, was reported in 1915 by Werner 171 in a 20 yrs old woman in her 6'h months of pregnancy; and in1918 Davidson181 reported the second case, in a two yrs old

baby. This type of congenital anomaly, reported by Werner and Davidson, is commonly referred to as Werner's syndrome171

, or, Werner mesomelic syndrome171, or, Eaton-McKusick syndrome191

• The first familial case of Werner

type was reported by Reber (1968) 1101, and second familial case was reported by Eaton and McKusick(1969) 191

•

Latter similar cases with familial inheritance were reported by various authors 12'4

'51

; which suggests the variable

expressivity and autosomal dominant mode of inheritance of this sort of congenital malformations. Gene

responsible for preaxial polydactyly associated with tibial dysplasia/ aplasia, has been localized to chrosome 7q36 111

•

Very few cases are reported in India, and even fewer from our region. Here we report a case of a newborn

on day-1, admitted in nursery with polydactyly of both upper and lower limbs, along with unilateral limb shortening and bilateral congenital talipes-equinovarus(CTEV); and also similar limb defects in the same family members spanning three generations.

·Keywords: Aplasia, Polydactyly, Tibial, Werner's syndrome, Eaton-McKusick Syndrome.

CASE REPORT

A kindred of four affected individuals in three generations, is described with autosomal dominant inheritance of polydactyly of hands and pedal polydactyly with unilateral agenesis of tibia.

A male term newborn of non­consanguineous marriage having unremarkable perinatal period, with birth weight of about 2.5 kgs., was delivered by cesarean section in the Department

of G & 0 of Burdwan Medical College and Hospital,

Burdwan, West Bengal, and was referred to nursing

unit, Dept. of Paediatrics of the same Institute, for

congenital limb anomaly.

Correspondence Dr. Utpal Dan Asso. Prof." Department ofAnatomy, Burdwan Medical College & Hospital E-mail J.D. - danutpal@gmail.com Moh.: 9434177906

J. Anat. Soc. India 59(1) 44-46 (2010) 44

On examination, the neonate (fig.-1 a & 1 b)

had six fingered hands and seven toes on both sides. There was lateral bowing and slight shortening of the leg on left side, along with inversion, adduction of foot. CTE'J, seen bilaterally, was more severe on left side.

On radiograph (fig.-2), there was complete absence of tibia on left side, with thickened fibula showing lateral bowing. We examined four family members (fig.-3 & 4), spanning three generations,

showing the following congenital limb defects(see

chart below):

DISCUSSION

Aplasia of long bones with polydactyly is one

of the most recognizable defects involving the extremities. It has got autosomal dominant mode. of

inheritance with variable expressivity.

Partial agenesis of radius1"

1 , Hirschsprung

disease, bilateral cryptorchidism, triphalangeal

Complete Tibial Aplasia ............................................... Utpal Dan, Kaustav Nayek, Tarak Nath Ghosh, Md. Shakil Akhtar

Cases AruL Gender Ulmer limb Lower limb

(deformities) (deformities)

Newborn Day-1 Male 6 fingers with 7 metatarsals

absent thumb in each foot,

in each hand. bilateraiCTE\1,

limb shortening with absent

tibia with thickened curved

fibula in left side.

Father 38yrs Male 6fingerswith 7 metatarsals in

absentthumb right side and,

in each hand. 8 metatarsals with limb

shortening in left side.

Aunt 36yrs Female 5fingers in 7 metatarsals in

each hand. each foot with

shortening of left leg.

Grandfather 78yrs Male 6 fingers with 5 metatarsals

with absent

thumb in

each hand.

thumbs, absent patella(e) 1121, duplication offibula(e)1

'31

,

microtrigonocephaly with prominent medial ridge of

forehead, short neck161, radioulnar synostosis1141

, and

ulnar agenesis(unilateral)1121 have also been reported

in association with tibial aplasia with preaxial

polydactyly. Hypoplastic tibia with postaxial

polydactyly with dominant inheritance has also been

reported 1151•

Our case presents typical picture of tibial

aplasia with polydactyly i.e., Werner type with a difference that tibial aplasia is unilateral. Polydactyly

45

in each foot,

syndactyly in

leftfoot,shortening of left leg.

involves both fingers and toes, and other anomalies

have been listed in the chart. We also observed four

affected members of the same family spanning three

generations (see chart). and both father to son(twice)

/and father to daughter(once) transmission have been

observed.

REFERENCES

1) Zguricas J, He us H, Morales-Peralta E et al. Clinical

and genetic studies on 12 preaxial polydactyly

families and refinement of the localization of the

Complete Tibial Aplasia ....... .. .... .... ..... ....... ....... ........... Utpal Dan, Kaustav Nayek, Tarak Nath Ghosh, Md. Shakil Akhtar

Fig. 1a : Newborn

Fig. 1b: Closeup of newborn feet.

Fig.2 : Skiagram of left leg of newborn.

46

Fig. 3 : Newborn with his father.

Fig. 4 : Father(F), paternal anunt(A), grandfather(G) of the newborn.

Complete Tibial Aplasia ............................................... Utpal Dan, Kaustav Nayek, Tarak Nath Ghosh, Md. Shakil Akhtar

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