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Case 3.3
Published in Monica Fawzy, Plastic Surgery Vivas for the FRCS(Plast), 2023
What is syndactyly?This is a congenital hand anomaly that was historically classified as ‘embryonic failure of differentiation’ according to Swanson’s classification and is now classified as ‘malformation unspecified axis’ according to the OMT classification.It occurs in 1 in every 2000 births, and is twice as common in males than in females, with the most affected interspace being the middle-ring interspace in non-syndromic patients, as shown in this case.It is bilateral in half of the patients and is usually sporadic, although it can be familial with autosomal dominant inheritance, or ‘complicated’ such as in those with Poland sequence or Apert syndrome.Syndactyly may be classified based on whether it is:simple or complex – depending on whether bony and cartilaginous structures are affected as well as soft tissues, orcomplete or incomplete – with controversy regarding the definition of a complete syndactyly as to whether it includes the fusion of both adjacent nails or digital fusion to the level of the DIPJ.
Congenital Hand
Published in J. Terrence Jose Jerome, Clinical Examination of the Hand, 2022
Syndactyly is defined as the fusion of the cutaneous (simple) or osseous (complex) elements of adjacent digits. Cutaneous (simple) syndactyly has only skin or soft tissue connections. The joints, tendons and digital neovascularity are usually normal and independent. Osseous (complex) syndactyly has skeletal fusions. The incidence of tendon and neurovascular anatomy are usually complexed in the syndactyly [31].
Fetal Structural Malformations and Recurrent Pregnancy Loss
Published in Howard J.A. Carp, Recurrent Pregnancy Loss, 2020
Howard J.A. Carp, Thomas Philipp, Micha Baum, Michal Berkenstadt
Limb defects such as polydactyly, oligodactyly, syndactyly, split-hand/split-foot malformation, and transverse limb reduction defects are the most commonly observed malformations. Polydactyly may occur as isolated malformation or may be part of a malformation syndrome, either of which may be genetic or of unknown origin. Postaxial polydactyly is common in trisomy 13 [15]. Syndactyly may be part of a genetic malformation syndrome. Syndactyly, which can be seen from the end of the 8th week when the fingers become free, is common in triploidy [15]. The split-hand/split-foot malformation can be a part of numerous syndromes, such as ectodermal dysplasia, ectodactyly, and clefts, and is often found in chromosome 15 trisomy. In transverse limb reduction defect, the distal structures of the limb are absent, with proximal parts are being more or less normal. These are due to a disruption sequence presumed to be due to peripheral ischemia [16]. The recurrence risk in future pregnancies is minimal [15].
Surgical treatment of macrodactyly of the foot in children
Published in Journal of Plastic Surgery and Hand Surgery, 2023
Lu Chen, Wei Huang, Wei Chen, Xiaofei Tian
A total of 27 feet of 26 patients with macrodactyly of the foot were evaluated, with a mean patient age of 33 months at the time of surgery (range: 7–108 months). Macrodactyly involved the right foot in eight patients, the left foot in seventeen patients, and both feet in one patient. The first, second, third, fourth, and fifth toes were involved in 13, 22, 16, 11 and 2 feet, respectively. All feet exhibited various degrees of hypertrophy of the soft tissues in the forefoot. One foot had only soft tissue involvement, eighteen feet had soft tissue and phalanx involvement, and eight feet had soft tissue, phalanx, and metatarsal involvement. Syndactyly presented in four feet, with two feet showing syndactyly of the second and third toes and two feet showing syndactyly of the second to fourth toes. Table 1 gives the clinical data of the patients.
Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology
Published in Fetal and Pediatric Pathology, 2022
Gabriele Tonni, Gianpaolo Grisolia, Maurizia Baldi, MariaPaola Bonasoni, Vladimiro Ginocchi, Liliam Cristine Rolo, Edward Araujo Júnior
To the best of our knowledge, this is the second case of Apert syndrome diagnosed early in the second trimester of pregnancy (19 weeks) as previously reported by Pooh et al. [10]. In the case reported by Pooh. et al. [10] the molecular analysis demonstrated a Ser252Trp mutation at the level of the FGFR2 gene; however, no chondral histology of the bone or additional imaging other than ultrasound was described. In addition, two other cases have been described in the medical literature, one diagnosed at 22 weeks [11] and the other seen at 21 weeks and confirmed at 23 weeks by MRI and ultrasound [12]. In both cases, genomic DNA confirmed the prenatal diagnosis of Apert syndrome. Apert syndrome should be differentiated with another craniosynostosis called Saethre-Chotzen syndrome (SCS). The latter is genetically due to a microdeletion affecting the chomosome 7 at locus p21. Phenotypically, SCS is characterized by symmetrical or asymmetrical craniosynostosis resulting from premature closure of the coronal suture compared to the premature closure of the metopic sutures as seen in Apert syndrome. Similarly to Apert syndrome, syndactyly is usually an associated finding.
Surgical treatment of polydactyly and syndactyly during the 4th century AD
Published in Acta Chirurgica Belgica, 2019
Marios Papadakis, Andreas Manios, Constantinos Trompoukis
Polydactyly, or polydactylism, is a common congenital disorder of the limbs, consisting of any digit duplication beyond the normal five. It appears in both hands and feet and it can be classified as syndromic or non-syndromic, on the basis of coexisting congenital abnormalities. Based on the localization of the extra digit, polydactyly of the hand can be categorized as pre-axial (or radial), affecting the thumb, and as post-axial (or ulnar), affecting the little finger. Syndactyly refers to fused digits, also a common congenital disorder affecting upper and lower limbs. Both diseases are well-described and despite medical advances, are still best treated with surgery. We herein present a thorough description of the disease and its surgical treatment, provided by Oribasius, a Byzantine physician of the 4th century.