|Year : 2019 | Volume
| Issue : 1 | Page : 46-47
Department of Nephrology, Pediatric Ward, Sevome Shaban Hospital, Tehran, Iran
|Date of Web Publication||17-May-2019|
Sevome Shaban Hospital, Tehran
Source of Support: None, Conflict of Interest: None
Phocomelia is a well known dysmorphism associated with antenatal use of thalidomide. Phocomelia may also be a part of many syndromes that overlap with each other. This case report presents a case of Ulbright-Hodes syndrome in a 7-yr-old boy with phocomelia, hypoplastic kidneys and short stature.
Keywords: Phocomelia, ulbright-Hodes syndrome
|How to cite this article:|
Malaki M. Ulbright-Hodes syndrome. Asian J Pediatr Nephrol 2019;2:46-7
Phocomelia is a rare birth defect whose presentation varies from short or absent upper arm with or without syndactyly, to severe forms affecting both upper and lower limbs. While the condition was historically linked to antenatal use of thalidomide, the condition is known to be inherited in autosomal recessive manner or may be sporadic. Phocomelia associated with bilateral renal agenesis and single umbilical artery has also been attributed to cocaine abuse during pregnancy.,
We present a 7-year-old boy with phocomelia who was incidentally detected to have raised urea and creatinine during evaluation for a febrile illness. Both upper limbs were affected with absent ulna, fusion of radiohumerus, and the presence of two of eight wrist bones [Figure 1]. Other skeletal deformities included absent pelvic ischia and sclerosis of femoral head [Figure 1], short stature and short neck. Systemic examination revealed micropenis. Abdominal ultrasound revealed a small echogenic right kidney without hydroureter, whereas the left kidney was absent [Figure 2]. Micturating cystourethrography was normal without evidence of vesicoureteral reflux. The mother denied the history of use of any drugs during pregnancy. She reported that a similarly affected neonate had succumbed within the 1st week of life; oligohydramnios had been documented prenatally. A 14-year-old paternal cousin with similar physical features has been on ambulatory peritoneal dialysis since the age of 7 years. Seven months after diagnosis, our patient underwent a living donor kidney transplantation and is currently on follow-up with stable allograft function.
|Figure 1: Left: Incomplete formation of forearm (radial, ulnar), radiohumeral fusion, and incompletely formed wrist bones (arrow). Right: Ischial arch is formed incompletely bilaterally (arrow head), right femur sclerosis and widening in left femur neck is visible|
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|Figure 2: Small right echogenic kidney (1.5 cm) without hydroureter (white arrow). Left kidney was not detected on ultrasonography|
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The association of limb and renal anomalies, first reported in 1969 following thalidomide use, was termed acrorenal syndrome. Limb and renal defects are seen in Roberts syndrome along with craniofacial abnormalities and intellectual disability., Patients with Al-Awadi/Raas-Rothschild or Schinzel syndrome may have pelvic aplasia, skull, facial or limb abnormalities, genital malformations, thoracic dystrophy, and/or renal anomalies. The present patient was diagnosed with to have Ulbright-Hodes syndrome, characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia, and Potter-like facies. This rare autosomal recessive disorder affects <1:1,000,000 neonates and has no identified genetic cause.
Patients with humeroradial fusion, pelvic bone and femoral joint dysplasia, growth failure, short neck and/or micropenis, should be suspected to have Ulbright-Hodes syndrome. Screening these patients for renal hypoplasia may enable interventions to retard disease progression and allow prenatal genetic counseling.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]