No abstract available.
Short Rib-Polydactyly Syndrome*

No abstract available.
Polydactyly

No abstract available.
Polydactyly*

INTRODUCTION: Polydactyly of the foot is not uncommon, with the preaxial type or hallux duplication comprising 15% of cases.2 Metatarsal type preaxial polydactyly (MTPP) accounts for an estimated third of all reported preaxial polydactyly cases. Traditional surgical procedures for this condition frequently have drawbacks that include varying degrees of hallux varus and a bigger forefoot.1 Due to these disadvantages, developed a simple and effective technique for the reconstruction of MTPP. CASE REPORT: Amalgamating osteotomy procedures were done for bilateral MTPP in an 18-month old girl who had been experiencing shoe ware difficulty. An excellent and pain-free functional outcome was achieved with good cosmetic appearance and an improved ability to wear various kinds of footwear. CONCLUSION Amalgamating osteotomy could be the procedure of choice for the reconstruction of metatarsal type preaxial polydactyly. Case series and long-term follow-ups should be done to compare outcomes with other surgical techniques.
Polydactyly

OBJECTIVE: To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS). METHODS: DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members. RESULTS: Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant. CONCLUSION The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.
Humans ; Child ; Pallister-Hall Syndrome/genetics* ; Kruppel-Like Transcription Factors/genetics* ; Zinc Finger Protein Gli3/genetics* ; Polydactyly/genetics* ; Hamartoma/pathology* ; Nerve Tissue Proteins/genetics*

Short rib-polydactyly syndrome (SRPS) is a rare type of skeletal dysplasia characterized by short limb dysplasia, thoracic hypoplasia, polydactyly and multiple visceral anomalies. It is transmitted as a autosomal recessive trait. There have been 4 classic types of SRPS, of which Saldino-Noonan type is the most common, and is characterized by very narrow thorax, short limb, postaxial polydactyly, striking metaphyseal dysplasia of tubular bones, pelvic abnormalities, hypoplasia of iliac bones, flat acetabulae, and abnormalities of urogenital, anorectal and cardiovascular system. We report a newborn infant who had typical features of Saldino-Noonan type SRPS, clinically and radiologically and had compatible autopsy findings.
Acetabulum ; Autopsy ; Cardiovascular System ; Extremities ; Humans ; Infant, Newborn ; Pelvic Bones ; Polydactyly ; Short Rib-Polydactyly Syndrome* ; Strikes, Employee ; Thorax

No abstract available.
Foot* ; Polydactyly*

No abstract available in English.
Classification ; Polydactyly

OBJECTIVE: To report on the clinical characteristics of a family of short-rib polydactyly syndrome type III and its pathogenic variants. METHODS: Muscle samples from the the third fetus was collected after the induction of labor, and peripheral blood samples of its parents and grandparents were also collected. Whole exome sequencing (WES) was carried out for the pedigree. Candidate variants were verified by Sanger sequencing of the family. RESULTS: The proband was found to harbor a c.9819+1G>A variant and a c.4625C>A variant of the DYNC2H1 gene, which were respectively inherited from its mother and father. Sanger sequencing verified that the family has fit the autosomal recessive inheritance. CONCLUSION The c.9819+1G>A and c.4625C>A variants of the DYNC2H1 gene probably underlay the short-rib polydactyly syndrome type 3 in the proband.
Child ; Cytoplasmic Dyneins/genetics* ; Humans ; Mutation ; Pedigree ; Ribs ; Short Rib-Polydactyly Syndrome/genetics*

No abstract available.
Classification* ; Foot* ; Polydactyly*