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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 also associated with platyspondyly and the typical ‘telephone handle’ appearance of the long bones. It overlaps with achondroplasia as both conditions cause narrowing of the interpedicular distance.
Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The milder disorder, hypochondroplasia, is allelic to achondroplasia; ‘compound heterozygotes’ have been recorded when one parent has achondroplasia and the other hypochondroplasia. Although most patients with hypochondroplasia have few physical problems and are mentally normal, a small number of cases with mental retardation have been reported. Also allelic to both conditions is the severe thanatophoric dysplasia. All three conditions are caused by (distinct) variants in one of the fibroblast growth factor receptor genes (FGFR3).
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Other FGFR3 mutations: hypochondroplasia: similar bone abnormalities, although milder, appearing occasionally during pregnancy although more commonly in childhood; thanatophoric dysplasia (pp. 32–46); homozygous achondroplasia (p. 56). SADDAN (Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans) is an extremely rare condition which may be viable and is caused by a specific dominant mutation (p.Lys650Met).
A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2)
Published in Fetal and Pediatric Pathology, 2019
Nasma K. Majeed, Diana Oramas, Valerie Lindgren, Steven Garzon, Dr. Elizabeth Wiley, Christopher Enakpene, Rajyasree Emmadi
The patient was a 27-week gestation male fetus born to a 19-year-old G2P1001 mother. The previous pregnancy three years prior resulted in a full term cesarean section with a normal fetus, and there was no history of prior miscarriages or termination of pregnancy. The mother presented with vaginal bleeding at 25 weeks of gestation. Ultrasound showed placenta previa with vasa previa and a fetus with enlarged posterior fossa, small thorax, large ventricular septal defect, short superior and inferior limbs and a club foot. Eleven days later an emergency cesarean section was performed due to heavy bleeding. The baby did not survive delivery, and an autopsy was performed. The fetus was a 490 g, phenotypically dysmorphic male with brachydactyly, macrocephaly, frontal bossing, soft calvarium, saddle nose, micrognathia, low set ears, and a narrow thoracic cavity. The chest circumference was 13.5 cm (Reference: 20.8 cm), and the combined lung weight was 4.7 g (Reference: 14.4 ± 9.7 g). Crown-heel length was 23.1 cm (Reference: 33.6 ± 3.2 cm), crown-rump length 19.2 cm (Reference: 24.1 ± 2.9 cm) and foot-length 3.4 cm (Reference: 4.9 ± 1.4 cm). The clinical differential diagnosis based upon the gross phenotype included thanatophoric dysplasia (Fig. 1).
Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months
Published in Fetal and Pediatric Pathology, 2018
Jeon Soo-kyeong, Narae Lee, Mi Hye Bae, Young Mi Han, Kyung Hee Park, Shin Yun Byun
Thanatophoric dysplasia (TD), one of the most common types of lethal skeletal dysplasia, is an osteochondrodysplasia resulting from a fibroblast growth factor receptor 3 gene (FGFR3) mutation on the short arm of chromosome 4. Since this disease has an autosomal dominant inheritance pattern caused by sporadic de novo mutations, it may be unrelated to a family history of skeletal disorders. FGFR3 has an important role in bone development by regulating chondrocyte differentiation and proliferation (1), and it’s mutations disturb progression of cerebral cortical development by activating the receptor tyrosine kinase (2).
Emerging therapies for Achondroplasia: changing the rules of the game
Published in Expert Opinion on Emerging Drugs, 2021
Smitha Kumble, Ravi Savarirayan
The future of the field includes the possibility of combination drug therapies to maximize clinical benefit and the emergence of gene therapies for achondroplasia. It is likely that these therapies might also be of benefit to other related skeletal dysplasia such as hypochondroplasia and thanatophoric dysplasia and potentially to other children with idiopathic forms of short stature, irrespective of their genetic etiology.