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Epidemiology of clubfoot
Published in R. L. Mittal, Clubfoot, 2018
McClure et al.98 reported 23 cases with direct physical examination diagnosis and 96 cases of self-reported diagnosis on survey, the largest series so far, of Moebius syndrome (with bilateral seventh cranial nerve palsy), with an average of 41.7% having clubfoot and the rest with other orthopedic defects. They found clubfoot incidence to be 60% in physical examination cases and 23% in survey cases. Clubfoot was the most common orthopedic defect in Moebius syndrome. Its association with Poland syndrome (unilateral absence of chest wall muscles and webbed fingers) were also present in 17% and 30% of cases in the two series. Klippel–Feil syndrome has also been reported to be associated with clubfoot. The exact etiology is not known, but there are many theories explaining a high association with orthopedic defects. There may be chromosomal abnormalities secondary to teratogenic exposure or a vascular episode subclavian in early pregnancy resulting in decreased blood supply to the brain stem causing such defects. Environmental factors, drugs such as misoprostol, and familial incidence have also been identified in some cases. Early diagnosis is important for proper diagnosis, recognizing the spine defects for anticipated anesthesia problems and timely treatment of orthopedic and other conditions, as well as timely counseling.
The shoulder and pectoral girdle
Published in Ashley W. Blom, David Warwick, Michael R. Whitehouse, Apley and Solomon’s System of Orthopaedics and Trauma, 2017
Klippel–Feil syndrome This is usually a more widespread disorder. There is bilateral failure of scapular descent associated with marked anomalies of the cervical spine and failure of fusion of the occipital bones. Patients look as if they have no neck; there is a low hairline, bilateral neck webbing and gross limitation of neck movement. This condition should not be confused with bilateral shortness of the sternomastoid muscle in which the head is poked forward and the chin thrust up; the absence of associated congenital lesions is a further distinguishing feature.
Accident and Emergency
Published in Nagi Giumma Barakat, Get Through, 2006
(i) Waardenburg’s syndrome Klippel-Feil syndromeAlport’s syndromePendred’s syndrome
Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS
Published in Fetal and Pediatric Pathology, 2021
Christoph Dracopoulos, Michael Gembicki, Jann Lennard Scharf, Amrei Welp, Nadine Berg, Jan Weichert
The postmortem X-ray of the fetus revealed a suspected segmentation disorder of the cervical spine suitable with a Klippel Feil syndrome (KFS). The pathologic examination of the fetus confirmed a skin-covered defect at the level of the cervical vertebrae C6/C7 (Fig. 4) with concomitant meningocele expanding from vertebra C4 to C7 (Fig. 3). Fusion of multiple cervical vertebrae resulting in a shortened neck as typical for KFS was not seen. It further showed the severe hydrocephalus externus and internus corresponding to prenatal observations. MCDK on the left side also was verified, whereas the right kidney was normal. Due to the presence of three of the required core features (VRH), the final diagnosis of VACTERL-H association was made. This was underpinned with the finding of a normal inconspicuous uterus and urogenital configuration excluding a Mullerian duct anomaly. Other potential malformations in the context of a VACTERL association, such as anal atresia, tracheoesophageal fistula, cardiac defects, or limb deformities were excluded during autopsy. Lack of viable chorionic tissue precluded a postmortem genetic evaluation.