PRENATAL DIAGNOSIS, VOL. 1 4 167-171 (1994)

TIBIAL HEMIMELIA SYNDROME: PRENATAL DIAGNOSIS BY REAL-TIME ULTRASOUND

MILDRED RAMIREZ*, JACQUELINE T. HECHT?, SUZANNE TAYLOR$ AND ISABELLE warns* Departments of Obstetrics and Gynecology*, Pediatricst and Pathology$, University of Texas Medical School at

Houston, Houston, Texas, U. S. A. Received March 1993 Revised August 1993

Accepted August 1993

SUMMARY The tibial hemimelia syndrome is a rare autosomal dominant condition associated with limb deficiencies. We

recently diagnosed this condition in a pregnancy at 16.5 weeks gestation by ultrasound and a positive family history. To our knowledge, this represents the first case to be detected prenatally. KEY woms-Tibial hemimelia syndrome, prenatal diagnosis, ultrasound, genetic syndrome, autosomal dominant inheritance.

INTRODUCTION fetus whose brother and father had the same condition. This is the 6rst report of prenatal diag- nosis of this condition. Tibia1 hemimelia syndrome, an autosomal domi-

nant condition, is associated with bilateral tibial agenesis, polysyndactyly of the feet, and five-finger hands (Richieri-Costa and Ferrareto, 1987). Recently, this condition was detected by high The patient was a 29-year-old white female with resolution ultrasound at 16.5 weeks gestation in a insulin-dependent diabetes who presented for

CASE REPORT

Fig. l-Longitudinal ultrasound scan of the 16.5-week fetus showing (a) polysyndactyly of the left foot and (b) abnormal posturing of the lower legs with club-foot deformities and absence of the left tibia

Addressee for correspondence: Mildred Ramirez, MD, University of Texas Medical Center at Houston, Department of Obstetrics and Gynecology, P.O. Box 20708, Houston, TX 77225, U.S.A.

01994 by John Wiley & Sons, Ltd. CCC 0197-3851/94/03016745

168 MILDRED RAMIREZ ET AL.

Fig. 2-Post-mortem evaluation shows radial deviation of the hands with five triphalangeal fingers and shortened lower extremities with club-feet

ultrasound evaluation because of a prior preg- Ultrasound examination at her first visit, at nancy resulting in a male offspring with tibia1 16.5 weeks, revealed a single viable fetus with a hemimelia syndrome. Her husband was also normal amount of amniotic fluid. Abnormalities affected. Both affected individuals had required of the lower extremities were present and multiple orthopaedic surgeries and were fitted with included bilateral agenesis of the tibia and bi- prosthetic devices. lateral club-foot (Fig. 1) with polysyndactyly

TIBIAL HEMIMELIA SYNDROME 169

Fig. 3-Radiograph of the lower extremities shows absent tibiae bilaterally. (a) The right foot had six toes and seven metatarsels. (b) The left foot had eight toes and seven metatarsels

(Fig. 1). The hands were radially deviated and five lingers were visualized. The thumbs appeared to be absent. The remainder of the anatomic survey was normal. The pregnancy was termi- nated electively by prostaglandin E, suppository induction.

Post-mortem examination revealed short lower extremities with severe bilateral club-foot defor- mities (Fig. 2). The right and left feet had six and eight toes, respectively. The arms were normal but the hands were radially deviated with five tri- phalangeal fingers (Fig. 2). A preaxial skin tag was present on the left hand. Post-mortem radiographs confirmed bilateral absence of the tibiae (Fig. 3). The feet were clubbed and there was polysyn- dactyly with eight and six toes and six and seven metatarsels on the right and left feet, respectively (Fig. 3). All fingers of the right hand were tri- phalangeal with a cleft between the second and third fingers (Fig. 4a). The left hand showed similar findings except that the thumb was di- phalangeal, distally placed, and in a web space with the fist finger (Fig. 4b).

DISCUSSION Tibia1 hemimelia syndrome is a rare condition

estimated to have a birth prevalence in the United

States of one per million births (Brown, 1971). The condition was first described by Otto in 1841 in a case report (Nutt and Smith, 1941). The syndrome is characterized by asbent tibiae, polysyndactyly and clubbing of the feet, triphalangeal fingers, and radial deviation of the hands (Richieri-Costa and Ferrareto, 1987). Autosomal dominant inheritance was first described in 1975 (Clark, 1975) and since then, at least 14 families with this condition have been described. Prenatal diagnosis, using fetal radiography, was attempted in a family with this disorder; however, the fetus was unaffected (Canun et al., 1984).

There are at least four other autosomal- dominant tibial hemimelia syndromes: the Werner syndrome, the tibial hemimelia-diplopodia syn- drome, tibial hemimelia split handfoot syndrome, and the tibial hemimelia-micromelia- trigonomachycephaly syndrome (Richieri-Costa and Ferrareto, 1987). The clinical manifestations of these syndromes have been summarized by Richieri-Costa and Ferrareto (1987), with all of them having tibial agenesislhypoplasia and poly- dactyly as characteristic findings. Variable expres- sion of these clinical findings has been noted. In addition, radio-ulnar synostosis is found in the Werner syndrome; ulnar and fibular reduplication in the tibial hemimelia-diplopodia syndrome;

170 MILDRED RAMIREZ ET AL.

Fig. &Radiographs of fetal hands at 18 weeks gestation. (a) The right hand was radially deviated and had five triphalangeal fingers. A cleft was present between the second and third fingers. (b) The left hand was also radially deviated. The thumb was diphalangeal and distally placed

short extremities, skull deformation, joint hyperex- tensibility, and cutis hyperelastica in the tibial hemimelia-micromelia-trigonomachycephaly syn- drome; and bifid femora and anochia in the tibial hemimelia split handfoot syndrome. None of these syndromes has previously been diagnosed prenatally by ultrasound.

Prenatal diagnosis of this tibial hemimelia syn- drome can be accomplished using ultrasound as the genetic defect has not been identified. Earlier diagnosis might be possible with the use of trans- vaginal sonography; however, our patient pre- sented at 16 weeks gestation. The accuracy of serial ultrasounds in diagnosing dwarfing condi- tions and limb abnormalities has previously been shown (Hobbins et af., 1982; Kurtz and Wapner, 1983; Wladimiroff et al., 1984; Hegge er af., 1986; Pretorius et af., 1986). To this growing list of disorders which can be diagnosed prenatally by ultrasound, we now add the tibial hemimelia syndrome.

ACKNOWLEDGEMENTS

We wish to thank Ms Martha Nichols for excel- lent ultrasound assistance and Dr Larry Robinson for radiographic interpretation.

REFERENCES

Brown, F.W. (1971). The Brown operation for total hemimelia tibia. In: Aiken, G.T. (Ed.). Selected Lower Limb Anomalies, Washington, DC: National Acad- emy of Sciences, 20.

Canun, S., Lomeli, R.M., Martinez, R., Carnevale, A. (1984). Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis, Clin. Genet., 25, 182-186.

Clark, M.W. (1975). Autosomal dominant inheritance of tibial meromelia, J. Bone Jt. Surg., 57A, 262-264.

Hegge, F.N., Prescott, G.H., Watson, P.T. (1986). Util- ity of a screening examination of the fetal extremities during obstetrical sonography, J. Ultrasound Med., 5 , 639645.

TIBIAL HEMIMELIA SYNDROME 171

Hobbins, J.C., Braken, M.B., Mahoney, M.J. (1982). Richieri-Costa, A., Ferrareto, I. (1987). Tibia1 hemi- Diagnosis of fetal skeletal dysplasia with ultrasound, melia: report on 37 new cases, clinical and genetic Am. J. Obstet. Gynecol., 142, 306-312. considerations, Am. J. Med. Genet., 27, 867-884.

Kurtz, A.B., Wapner, R.T. (1983). Ultrasonographic Wladimiroff, J.W., Niermeijer, M.F., Larr, J., Hahoda, diagnosis of second-trimester skeletal dysplasia: a M., Stewart, P.A. (1984). Prenatal diagnosis of skel- prospective analysis in a high risk population, J. etal dysplasia by real-time ultrasound, Obstet. Ultrasound Med., 2, 99-106. Gynecol., 63, 360-364.