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  • Report of a new case of “genitopatellar” syndrome which challenges the importance of absent patellae as a defining feature

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Report of a new case of “genitopatellar” syndrome which challenges the importance of absent patellae as a defining feature
  1. L Armstrong1,
  2. J T R Clarke2
  1. 1Department of Medical Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
  2. 2Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
  1. Correspondence to:
 Dr L Armstrong, Department of Medical Genetics, Children’s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, Canada K1H 8L1;
 liarmstrong{at}cheo.on.ca

https://doi.org/10.1136/jmg.39.12.933

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    In a recent paper, Cormier-Daire et al1 proposed a new condition, “genitopatellar syndrome”. They highlighted the association of abnormal patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (including two sets of sibs), and in a child previously reported by Goldblatt et al.2 They suggested probable autosomal recessive inheritance and attributed the observed predominance of males among reported patients to the easier recognition of genital abnormalities in males.

    CASE REPORT

    We report a 3 month old male patient who was born to non-consanguineous parents. His adult father functions intellectually at approximately the grade 3 level; the aetiology of his learning difficulties is not known and he had no congenital anomalies. One of the patient’s paternal half brothers is autistic. Other sibs and half sibs are healthy. There were no known teratogenic exposures. At the 20 week prenatal ultrasound, hydronephrosis was noted, and at 25 weeks’ gestation renal cysts were shown sonographically.

    The boy was delivered at term with a weight of 3395 g (45th-50th centile) and a head circumference of 33 cm (15th-20th centile). Initially his respiratory efforts were poor and he had apnoeic and bradycardic episodes. He was an irritable baby who …

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