|Year : 2015 | Volume
| Issue : 1 | Page : 38-41
Renal dysplasia-limb reduction defect syndrome
Setu Rathod, Sunil Kumar Samal, Seetesh Ghose
Department of Obstetrics and Gynaecology, Mahatma Gandhi Medical College and Research Institute, Puducherry, India
|Date of Web Publication||10-Feb-2015|
Sunil Kumar Samal
4-D, Type II Staff Quarters, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam - 607 402, Puducherry
Source of Support: None, Conflict of Interest: None
Renal dysplasia-limb reduction defects syndrome (RL syndrome), also known as Ulbright-Hodes syndrome, is a very rare autosomal recessive congenital disorder. We report a case of 26-year-old G 3 A 2 at 25 +5 week s of gestation who was referred to our department with severe oligohydramnios and fetal growth restriction detected in routine second trimester scan. She had consanguineous marriage with her husband. On sonography, severe oligohydramnios and growth restriction with fetal biometric measurements compatible with 19 weeks of gestation with additional bilateral renal dysplasia were confirmed. Based on these findings, a provisional diagnosis of lethal skeletal with renal dysplasia was made. The couple was counseled, and pregnancy was terminated at 26 weeks of gestation. Postmortem autopsy and radiological examination confirmed the diagnosis. This case report gives emphasis regarding the problem of congenital malformations and their early prenatal diagnosis, which will aid in an alternative option of termination of pregnancy when such an affected fetus is detected.
Keywords: Potters facies, renal dysplasia, renal dysplasia-limb reduction defect syndrome, Ulbright-Hodes syndrome
|How to cite this article:|
Rathod S, Samal SK, Ghose S. Renal dysplasia-limb reduction defect syndrome. J Clin Neonatol 2015;4:38-41
| Introduction|| |
Renal dysplasia-limb reduction defects syndrome (RL syndrome), is a rare lethal congenital anomaly with only few cases reported in the literature. It is characterized by mesomelia, radiohumeral fusion, bilateral talipes equinovarus, Potter's facies, and renal dysplasia. We report the successful prenatal diagnosis of this condition at 26 weeks of gestation in a couple with a history of consanguineous marriage. We discuss here about the sonographic findings, new and atypical features, the differential diagnosis, and morphological findings after delivery. This case was reported because of its rarity.
| Case report|| |
A 26-year-old G 3 A 2 at 25 +5 week s of gestation who was referred to our department as a case of lethal skeletal and renal dysplasia with severe oligohydramnios, which was detected in her routine second trimester ultrasound scan. Her previous two pregnancies were spontaneous first-trimester abortion where karyotyping was not done. She had consanguinity with her husband who was 30-year-old and a daily laborer. Neither was there any history of congenital anomaly in the family nor was she exposed to any teratogenic agents during the first trimester. On ultrasonography, severe oligohydramnios (amniotic fluid index = 3), growth restriction with fetal biometric measurements compatible with 19 weeks gestation and bilateral renal dysplasia [Figure 1] were confirmed. Severe placentomegaly [Figure 2] with placental thickness of 6.71 cm was seen. Per abdominal examination revealed a pregnant uterus corresponding to 16-18 weeks gestation. Based on these findings, a provisional diagnosis of lethal skeletal and renal dysplasia was made, and the couple was counseled for medical termination of pregnancy (MTP). MTP was done at 26 weeks of gestation, and the expelled fetus had multiple congenital anomalies [Figure 3] such as shortening of all limbs, hyperextension of both hands, single umbilical artery [Figure 4] and a Potter-like face with a beaked nose, slight antimongoloid slanting of the palpebral fissures, micrognathia, a high palate and small mouth, low set soft dysplastic ears [Figure 5], a short neck and hypoplastic lungs were noted. The diagnosis of limb reduction defects and renal dysplasia, or Ulbright-Hodes syndrome (UHS), was confirmed postnatally. X-ray picture showed shortening of all four limbs, long and thin ribs and anterior rounding of lumbar vertebra [Figure 6]. Fetal autopsy revealed bilateral enlarged kidneys with multiple cysts and pulmonary hypoplasia.
|Figure 1: Ultrasonography picture showing bilateral enlarged and hyperechoic kidneys suggestive of renal dysplasia|
Click here to view
|Figure 3: "Potter-like face" with a beaked nose, slight antimongoloid slanting of the palpebral fissures, micrognathia and a small mouth, Shortening of all four limbs, hyperextension of hands and bilateral talipes equinovarus|
Click here to view
|Figure 6: X-ray picture showing shortening of all four limbs, long and thin ribs and anterior rounding of lumbar vertebra|
Click here to view
| Discussion|| |
Renal dysplasia-limb reduction defect syndrome, also known as RL syndrome or UHS is an extremely rare lethal congenital anomaly, with only four cases reported in the literature. Ulbright et al.  reported an isolated male neonate with a "new syndrome" consisting of mesomelia, radiohumeral fusion, and renal dysplasia. The main manifestations described were a high palate, congenital shortness of the forearms and metacarpals with fusion of the humerus and radius, absence of the ulnae and severe hypoplasia of the radius, absent fibulae, bilateral talipes equinovarus, long, thin ribs, anterior rounding of the lumbar vertebrae, and renal hypoplasia. This syndrome appears lethal because of the severe renal dysplasia causing oligohydramnios and pulmonary hypoplasia. Schrander-Stumpel et al.  reported about two siblings, a male and a female, who died of respiratory failure shortly after birth. In both the cases, complete phocomelia of the upper limbs, rib anomalies, renal dysplasia, external genital abnormalities, and a Potter-like face with growth restriction were present. Based on these findings, Schrander-Stumpel et al. hypothesized that their cases represented evidence of the existence of the new syndrome described by Ulbright et al. and suspected an autosomal recessive transmission. Maruotti et al.  reported a case of 21 weeks male fetus diagnosed by antenatal ultrasound with features of shortening of all limbs, absent fibula and ulna, radio-humoral fusion, left club foot, Potters facies with bilateral renal dysplasia. In addition, features like cerebellar hypoplasia and moderate cleft features were also reported by the author. The ultrasonographic findings, clinical features and autopsy findings of the cases reported in the literature are presented in [Table 1].
In our case, there was congenital shortening of all four limbs, bilateral talipes equinovarous, "Potter-like face" with a beaked nose, slight antimongoloid slanting of the palpebral fissures, micrognathia, a high palate and small mouth, a low set soft dysplastic ear, long and thin ribs, anterior rounding of lumbar vertebra and bilateral renal dysplasia was present. Severe oligohydramnios due to bilateral renal dysplasia was responsible for talipes equinovarus, Potters facies and pulmonary hypoplasia which led to the death of the fetus. Radiofemoral fusion was absent in our case. However, additional features like single umblical artery with severe placentomegaly were present. As the mother had consanguinity with her husband, an autosomal recessive transmission was suspected in our case. Based on these findings, we suggest that our case was UBH instead of another known condition or a new syndrome.
In the Online Mendelian Inheritance in Man database, limb reduction defects are features of 109 syndromes and renal dysplasia of 230; however, the coexistence of both abnormalities is typical of only 20 conditions.  Among the differential diagnosis, thrombocytopenia and absent radius (TAR) syndrome  has features such as bilateral absence of the radius and thrombocytopenia, but complete phocomelia of the arms has been described in about 5% of cases. Defects of the limbs are possible in TAR syndrome; however, the fibula aplasia and renal dysplasia have never before been described. In the case of mesomelic dwarfism syndrome which involves hypoplasia of the ulnae, fibulae, and mandible, does not include renal abnormalities.  Schinzel-Giedion syndrome is characterized by renal malformation, mesomelic brachymelia, and talipes, but it does not include the absence of ulnae and fibulae, the Potters facies, rib, and hand anomalies observed in limb reduction defects and renal dysplasia.  Gollop and Coates described a case of bifid humerus and hand malformation, but it lacked renal involvement.  Although atelosteogenesis type 2, or de la Chapelle dysplasia is characterized by severely shortened limbs, a bifid distal humerus, a rounded distal femur, a small chest, scoliosis, clubfoot, abducted thumbs, and a cleft palate, renal dysplasia is not a typical feature of this condition. 
| Conclusion|| |
We have reported an extremely rare case of renal dysplasia and limb reduction defect, also known as UHS, which was suspected in antenatal ultrasonography and diagnosed after MTP. In view of the presence of consanguinity in this case, genetic counseling with karyotyping of the parents and family members should be done to know the carrier status. Screening and early prenatal diagnosis will help in the detection of an affected fetus and aid in an alternative option of termination of pregnancy. Finally, the parents as well as their families should be examined and counseled about the risk of recurrence in the next pregnancy.
| Acknowledgments|| |
We thank the Department of Mahatma Gandhi Medical College and Research Institute, Puducherry for their valuable support and co-operation of patients and their families admitted to this hospital.
| References|| |
Ulbright CE, Hodes ME, Ulbright TM. New syndrome: Renal dysplasia, mesomelia, and radiohumeral fusion. Am J Med Genet 1984;17:667-8.
Schrander-Stumpel C, de Die-Smulders C, Fryns JP, da Costa J, Bouckaert P. Limb reduction defects and renal dysplasia: Confirmation of a new, apparently lethal, autosomal recessive MCA syndrome. Am J Med Genet 1990;37:133-5.
Maruotti GM, Agangi A, Napolitano R, Mazzarelli LL, Quaglia F, Carbone IF, et al.
Prenatal diagnosis of Ulbright-Hodes syndrome. J Ultrasound Med 2009;28:385-8.
Hall JG. Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet 1987;24:79-83.
Kelley RI, Zackai EH, Charney EB. Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: The Schinzel-Giedion syndrome. J Pediatr 1982;100:943-6.
Gollop TR, Coates V. Apparent bifurcatio of distal humerous with oligoectro-syndactyly. Am J Med Genet 1983;14:591-3.
Whitley CB, Burke BA, Granroth G, Gorlin RJ. de la Chapelle dysplasia. Am J Med Genet 1986;25:29-39.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]