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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).
Haematology and oncology
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
9.32. Which of the following statements is/are true of Wilms' tumour?It is the most common malignant tumour of the genitourinary tract of childhood.With current treatment 5-year survival exceeds over 60%.There is an increased incidence of congenital hemihypertrophy in this tumour.Prognosis is less favourable in children under 2 years of age.It presents with haematuria in more than 70% of cases.
The gastrointestinal tract
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The Beckwith-Wiedemann syndrome of exomphalos, macroglossia, general somatic overgrowth and hypoglycaemia is an important and treatable cause to exclude. It is important to prevent symptomatic hypoglycaemia in the neonatal period and so prompt recognition is important. Asymmetry with partial hemihypertrophy may be prominent. Abnormal features may diminish during childhood and are often inconspicuous by adult life. There is an increased risk of various embryonal tumours, especially Wilms tumour (for which surveillance is available). Autosomal dominant inheritance applies but is modified by genetic imprinting and many cases arise de novo. Microduplications on chromosome 11p involving the insulin-like growth factor (IGF)-2 are responsible for some cases. Other cases result from an effective duplication of the paternal copy of distal 11p by uniparental disomy (e.g. by mitotic recombination or by an anomaly of methylation) or point mutations in the gene CDKN1C (see section on ‘Genomic Imprinting’, in Chapter 2).
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae
Published in Ophthalmic Genetics, 2022
Akshaya L. Thananjeyan, Tanya Karaconji, Maree Flaherty, Sophia Zagora, Robyn V. Jamieson, John R. B. Grigg
Our patient, on initial presentation, was conservatively managed until developing unilateral right-sided ocular hypertension. It has been previously proposed that globe enlargement in NF1 may not solely be attributed to ocular hypertension or glaucoma, as in cases with regional gigantism, ocular overgrowth can play a significant role in its manifestation (6). Hoyt et al. (6) documented a case of enlarging buphthalmos in a patient with NF1 and hemifacial hypertrophy with only moderately elevated IOP, attributing globe enlargement to additional factors including ocular gigantism and generalized hyperplasia of the orbit while drawing parallels to how regional gigantism affected surrounding structures. Similar to our patient, clinically evident buphthalmos preceded facial hemihypertrophy.
PHACES syndrome with ectopia cordis and hemihypertrophy
Published in Baylor University Medical Center Proceedings, 2019
Jad Chokr, Bedros Taslakian, Gilbert Maroun, Gagandeep Choudhary
The association of hemihypertrophy with PHACES syndrome has not been previously reported. Hemihypertrophy, more accurately referred to as hemihyperplasia, is a rare overgrowth disorder of unknown etiology that is characterized by enlargement of part or all of one side of the body. It can be sporadic or in association with other syndromes like Beckwith-Wiedemann syndrome, Proteus syndrome, Klippel-Trenaunay syndrome, Russell-Silver syndrome, and neurofibromatosis type 1.8 Several reports showed an increased risk of neoplasms in overgrowth disorders, in particular embryonal tumors, which warrants close follow-up with serum markers and imaging.9,10 Likewise, ectopia cordis can be seen either in isolation or in association with syndromes, such as the pentalogy of Cantrell.11 Those can be differentiated by clinical criteria and imaging findings.