Maternal diabetes has an established aetiological link with developmental abnormalities, and the prevalence of major congenital malformations in the offspring of affected women is approximately 4-8%, compared to the general population risk of about 3%. Hallucal polydactyly, particularly with an unusual proximal placement of the extra digit, has been reported as a distinctive anomaly in diabetic embryopathy. We report on a child of a diabetic mother with this unusual form of hallucal polydactyly, together with other skeletal anomalies, confirming that this malformation is a useful clinical marker for the diagnosis of diabetic embryopathy.
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http://dx.doi.org/10.1136/jmg.34.3.261 | DOI Listing |
Mol Genet Genomic Med
December 2019
Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability. RSTS is mainly caused by de novo variants in epigenetics-associated gene, CREBBP. To date, there is no cohort study of CREBBP variants in Chinese RSTS patients.
View Article and Find Full Text PDFJ Hand Surg Asian Pac Vol
December 2018
1 Department of Hand Surgery & Peripheral Nerve Surgery, Royal North Shore Hospital, The Children's Hospital at Westmead, University of Sydney, St Leonards, Sydney, Australia.
Lower limb malformations in VACTERL patients are extremely rare and the most common anomalies are found in the tibial ray. We present the case of a 15 month old male with VACTERL and, additionally, a hypoplastic hallucal ray of the right foot in conjunction with a floating preaxial polydactyly. The great toe hypoplasia is similar to a grade 3b thumb hypoplasia with absence of the proximal two-thirds of the first metatarsal on the plain X-ray.
View Article and Find Full Text PDFAm J Med Genet A
November 2018
Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.
Congenital lumbar hernia is a rare anomaly consisting of protrusion of abdominal organs or extraperitoneal tissue through a defect in the lateral abdominal wall. The majority of affected patients have additional anomalies in a pattern described as the lumbocostovertebral syndrome. We report four patients born to mothers with poorly controlled diabetes with congenital lumbar hernia.
View Article and Find Full Text PDFJ Bone Joint Surg Am
August 2016
Department of Plastic, Reconstructive and Hand Surgery, Erasmus Medical Centre, Rotterdam, the Netherlands
Background: Polydactyly at the medial side of the foot ("medial polydactyly" of the foot) is a rare and diverse congenital anomaly. In order to plan and evaluate surgical treatment, the classification of medial polydactyly is useful. The aim of our study was to develop a reliable and valid classification system for medial polydactyly of the foot that is more useful than previous systems for preoperative evaluation and surgical planning.
View Article and Find Full Text PDFJ Pediatr Orthop
September 2016
Department of Orthopaedic Surgery, Harvard Medical School, Children's Hospital Boston, Boston, MA.
Background: Polydactyly of the foot is a relatively common condition. Approximately 15% of cases are preaxial, with one third of these cases involving duplication of the metatarsal [metatarsal type preaxial polydactyly (MTPP)].Surgical reconstruction of polydactyly is indicated to improve shoe tolerance.
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