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Congenital Hand
Published in J. Terrence Jose Jerome, Clinical Examination of the Hand, 2022
Clinodactyly typically presents as radial deviation of the little finger and is often bilateral. The thumb and ring finger are the next most frequently affected digits [6]. The delta phalanx is the result of early complete ossification of a C-shaped bracket and results in the most severe deformities [40].
Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
Musculoskeletal in 70%: Kyphoscoliosis.Hemihypertrophy in 16%.Chest wall deformities.Finger abnormalities (syndactyly, clinodactyly).
Hands
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Clinodactyly is the curvature of a digit in a radio-ulnar plane that in most cases is usually a radial deviation at the PIPJ of the little finger and usually bilateral. It is most commonly due to an abnormally shaped phalanx (usually MP) leading to abnormal longitudinal growth. The classic ‘delta’ phalanx (Blundell Jones G, J Bone J Surg, 1964) – longitudinally bracketed epiphysis – is characterised by a trapezoidal or triangular phalangeal bone with a curved ‘C’-shaped epiphysis, which makes angulation inevitable.
Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!
Published in Fetal and Pediatric Pathology, 2023
Priya Ranganath, Vineeth VS, Ikromi Rungsung, Ashwin Dalal, Shagun Aggarwal
A third-degree consanguineously married couple was referred in their fifth pregnancy in view of ultrasound done elsewhere showing increased nuchal translucency. Prenatal scan at our center at 13 weeks 4 days showed intrauterine fetal demise with hydrops and cystic hygroma (Figure 1). Cardiac structure assessment by ultrasound was unsuccessful. The fetus was delivered at 14 weeks and underwent autopsy. Previously, the couple had 2 miscarriages with blighted ovums, a spontaneous abortion at 10 weeks and an intra-uterine fetal demise at 23 weeks for which the cause was not evaluated. The autopsy of the present fetus showed subtle facial dysmorphism in form of prominent supraorbital region, mild hypertelorism, and broad short nose with upturned tip of nose, anteverted nares and micro-retrognathia. There was a large cystic hygroma of the neck extending from occiput to lower lumbar region, generalized subcutaneous edema and pleural effusions. Hands showed brachydactyly and 5th finger clinodactyly (Figure 2a–e).
Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency
Published in Fetal and Pediatric Pathology, 2021
Ceren Damla Durmaz, Şule Altıner, Elifcan Taşdelen, Halil Gürhan Karabulut, Hatice Ilgın Ruhi
17q22 microdeletion syndrome is a contiguous gene syndrome recently described by Laurell et al. [1]. Characteristic features of the syndrome are intellectual disability (ID), attention deficit hyperactivity disorder, facial dysmorphism (microcephaly, narrow long face, maxillary hypoplasia, short philtrum, thin border of upper lip, micrognathia, large bulbous nose, hypoplastic alae nasi, prominent columella, large dysplastic ears, upslanting palpebral fissures, epicantal folds and hypertelorism), conductive hearing loss, visual impairment like astigmatism, hyperopia, strabismus and limb anomalies such as symphalangism, brachydactyly, clinodactyly, short first metacarpal, proximally placed thumbs, coxa valga, genu valgum, and broad halluces [1]. Affected individuals have variable clinical manifestations depending on the deletion sizes.
A patient with macrodystrophia lipomatosa bilaterally affecting the entire upper extremity: reporting of a rare case and literature review
Published in Case Reports in Plastic Surgery and Hand Surgery, 2021
Kyoko Baba, Shinya Kashiwagi, Mitsuru Nemoto, Akira Takeda, Keizo Fukumoto, Eiju Uchinuma
The differential diagnosis of MDL includes fibrolipomatous hamartoma, lymphangiomatosis, hemangiomatosis, Klippel-Trenaunay-Weber syndrome, and Proteus syndrome [16–20]. Among them, the concurrence of MDL and fibrolipomatous hamartoma in the upper extremities has frequently been reported [21–23]; however, the association thereof remains unclear [6]. Other concurrent disorders include clinodactyly, syndactyly, polydactyly, and symphalangism [4,24]. The some authors consider that MDL as a localized form of Proteus syndrome in reports before 2000 [25–27]. Furthermore, there are some confusion of macrodystrophia lipomatosa and fibrolipoma of nerve [9,28]. Although, the most authors believe that the gross changes have as histopathological substrate the proliferation of mesenchymal elements with an excess of adipose/fibro-adipose tissue in the dermis in MDL [28].