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The patient presented to Clinical Genetics at 10 months old with poor growth, motor delay and marked joint hypermobility. He was the first-born child of consanguineous Pakistani parents with no… Click to show full abstract
The patient presented to Clinical Genetics at 10 months old with poor growth, motor delay and marked joint hypermobility. He was the first-born child of consanguineous Pakistani parents with no family history except one stillbirth born to the patient’s maternal great aunt. The pregnancy was unremarkable except that a possibility of talipes was raised following the fetal anomaly scan, and a spontaneous premature vaginal delivery at 31 weeks gestation (birth weight 1.44 kg, 9–25th centile for gestation).
Keywords:
patient;
novel homozygous;
patient kim;
cant1 patient;
variant cant1;
homozygous variant
Journal Title: Clinical Dysmorphology
Year Published: 2019
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Journal Title: Clinical Dysmorphology
Year Published: 2019
Link to full text (if available)
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recommendations!