Fetal Structural Malformations and Recurrent Pregnancy Loss
Howard J.A. Carp in Recurrent Pregnancy Loss, 2020
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].
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow in Fetal and Perinatal Skeletal Dysplasias, 2012
Prenatal US features: sonography in an at-risk fetus at 18 weeks showed four digits on each limb. The diagnosis was confirmed by fetoscopy confirming the absence of thumbs and halluces. Another case was detected at 29 weeks’ gestation identifying absent thumbs and halluces. There is growth retardation before or after birth (approximately 50% of patients). The most frequent craniofacial abnormalities are wide sutures with large fontanelles (95%), that may be detectable with three-dimensional ultrasound, prominent eyes (81%) due to midfacial hypoplasia, mild hypertelorism, cleft lip and palate, and micrognathia (100%). Several structural central nervous system abnormalities can be detected including microcephaly, mild ventriculomegaly, hydrocephalus with Dandy-Walker malformation, hypoplasia of the cerebellar vermis, and agenesis or hypoplasia of the corpus callosum. An accurate and complete ultrasound examination includes assessment of the fetal hands and feet showing agenesis/hypoplasia of thumbs and halluces (91% and 95%, respectively); distal/middle phalangeal hypoplasia or aphalangia of hands and feet. Syndactyly is described in less 20% of patients. Clavicular abnormalities (hypoplasia or agenesis) are present in 56%–74% of patients, and reduced ossification of the sternum in 30%–89%. Congenital heart malformations include tetralogy of Fallot, ventricular septal defect and cardiomyopathy. Polyhydramnios and hydrops fetalis may be associated.
Hands
Tor Wo Chiu in Stone’s Plastic Surgery Facts, 2018
Indications for earlier surgery (4–6 months) in syndactyly: Border digits.With multiple webs – border digits first, aiming to finish all by 3 years; only one side at a timeLength discrepancy; there may be increasing deformity of longer digits.Complex syndactyly involving DP or producing flexion contracture.
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.
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.
Related Knowledge Centers
- Apert Syndrome
- Phenotype
- Sonic Hedgehog Protein
- Apoptosis
- Constriction Ring Syndrome
- Locus
- Metacarpal Bones
- Metatarsal Bones
- Dactyly
- Webbed Toes