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Paper 2
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Thanatophoric dysplasia is one of the lethal dwarfisms. Rhizomelia involves shortening of a proximal segment relative to a distal segment, for example the humerus or femur, as described in this case. Achondroplasia, thanatophoric dysplasia and chondrodysplasia punctata can be examples of this.
Musculoskeletal
Published in Vincent Helyar, Aidan Shaw, The Final FRCR, 2017
This is the most common rhizomelic dwarfism and is inherited in an autosomal dominant pattern. The most significant complication is brain stem/cord compression due to spinal stenosis caused by abnormal alignment and a congenitally narrow canal (short pedicles and a reduced inter-pedicular distance contribute to this).
Genetic disorders, skeletal dysplasias and malformations
Published in Ashley W. Blom, David Warwick, Michael R. Whitehouse, Apley and Solomon’s System of Orthopaedics and Trauma, 2017
Fergal Monsell, Martin Gargan, Deborah Eastwood, James Turner, Ryan Katchky
The most striking clinical features in the older child are disproportionate short limbs and characteristic facial features. The limb shortening is rhizomelic, with more significant shortening of the proximal segments. The average adult height is approximately 125 cm in females and 132 cm in males, intelligence is normal and lifespan is unaffected.
High-resolution computed tomography temporal bone imaging in achondroplasia
Published in Baylor University Medical Center Proceedings, 2021
Puneet S. Kochar, Priti Soin, Ayah Megahed
Achondroplasia is an autosomal dominant genetic disorder characterized by rhizomelic shortening, with a reported incidence of 15 to 125 per million live births.1 It is caused by a genetic defect, where amino acid arginine replaces glycine at position 380 in the gene that encodes fibroblast growth factor receptor 3 (FGFR3), resulting in abnormal endochondral ossification.2 In the head and neck region, this presents as macrocephaly with frontal bossing and depressed nasal bridge, giving the characteristic physical appearance.3 Several morphologic changes are seen on high-resolution computed tomography (HRCT) of the temporal bones that predispose patients to recurrent otitis media and hearing loss. These include “towering” of petrous ridges, upward tilting of the internal acoustic canal (IAC), vertical orientation of the geniculate ganglion, and a broad “ice cream cone” appearance of middle ear ossicles. We discuss these interesting HRCT findings.
Novel use of the Cochlear® Hybrid CI24REH cochlear implant
Published in Cochlear Implants International, 2018
Yahya Atiya, Mohamed Razwi Ahmed, Dani Schlesinger-Michelow
Chondrodysplasia punctata is a heterogeneous group of skeletal dysplasia, grouped with dwarfism and other causes of short stature. There are two types – rhizomelic and non-rhizomelic (Braverman et al. 1993–2016a, 1993–2016b; Dempsey et al. 1993–2016). The rhizomelic form is autosomal, and is much more severe. Three non-rhizomelic genetic types are described, all X-linked, one dominant and two recessive. The dominant type is lethal in male infants. Abnormalities range from subtle, to gross skeletal, skin, and ophthalmological manifestations. Mental retardation is possible but not common in X-linked types (Braverman et al. 1993–2016a). Although mixed hearing loss has been described, it is usually of a conductive type (Braverman et al. 1993–2016b).
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene
Published in Ophthalmic Genetics, 2023
Bilge Batu Oto, Deniz Ağırbaşlı, Oğuzhan Kılıçarslan, Gökhan Celik, Aysel Kalayci Yigin, Mehmet Seven, Hüseyin Yetik
Detailed physical examination in GETAM revealed growth retardation findings with rhizomelia, short stature [77 cm (<3%ile)], and low weight [10 kg (<3%ile)]. His head circumference was 50 cm (50–75%ile). He had dysmorphic findings of hypertelorism, deep set eyes, long and triangular face, prominent forehead, pointed chin, short femoral neck, small hands with short metacarpals, and metatarsals which are compatible with SOFT Syndrome (Figure 2). The extra phenotypic findings were Widow’s peak and thick hair, micrognathia, small chest, pectus excavatum, and short wide phalanges. The patient has 2 elder female siblings who had normal phenotypes.