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  • Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?

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Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?
  1. J Siegel-Bartlet1,*,
  2. A Levin2,
  3. A S Teebi1,
  4. S J Kennedy1
  1. 1Section of Clinical Genetics and Dysmorphology, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
  2. 2Department of Ophthalmology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
  1. Correspondence to:
 Professor A S Teebi, Section of Clinical Genetics and Dysmorphology, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada;
 ateebi{at}sickkids.on.ca

https://doi.org/10.1136/jmg.39.2.145

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    Neural tube defects are usually multifactorial. They can also be associated with a number of underlying monogenic or chromosomal conditions. These include autosomal recessive disorders, such as Meckel-Gruber, Roberts, and Walker-Warburg syndromes, and chromosomal anomalies, such as microdeletion 22q11.1 Also, teratogenic conditions, such as valproate embryopathy, may also have an association with neural tube defects.2 We present an apparently autosomal recessive, syndromic form of sacral neural tube defects resulting in tethered cord in two female sibs.

    CASE REPORTS

    Patient 1 was born to a G4, P3 mother and has three healthy, older maternal half sibs who have a different father. Her parents are of mixed European descent and non-consanguineous. The pregnancy history was negative for maternal illness or known teratogen exposure. Labour began spontaneously at 38 weeks. The delivery was complicated by fetal bradycardia following artificial rupture of the membranes. An emergency caesarian section was performed because of abruptio placentae. The birth weight was 1750 g (<3rd centile), head circumference was 30.5 cm (<3rd centile), and length 45.5 cm (<3rd centile). Apgar scores were 3 at one minute and 8 at five minutes. Two vessels were present in the umbilical cord. The placenta was found to have areas of calcification with a few foci of intravillous thrombosis and mild acute chorioamnionitis.

    Atrial and ventricular septal defects, detected in infancy, were repaired at 10 months. A sacral dimple prompted an MRI of the spine which showed a low lying conus medullaris at the lower aspect of L2 (fig 1). The patient's tethered cord was surgically repaired at 30 months. The patient has required a fundoplication and is fed by gastrostomy tube. She has also had surgical release of her heel cords and the tendons behind her knees.

    Figure 1

    (A, B) Patient 1. T1 (TR540/TE10) sagittal and axial image of the cord shows …

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