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Perinatal Airway Management
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Pensée Wu, May M.C. Yaneza, Haytham Kubba, W. Andrew Clement, Alan D. Cameron
At the 20-week fetal anomaly ultrasound scan, fetal features of small chin, prominent upper lip or polyhydramnios may raise the suspicion of micrognathia. Fetal MRI can be used to further assess the severity of micrognathia by evaluating the relationship of the tongue to the airway (glossoptosis). Several congenital syndromes are associated with micrognathia, including Cornelia de Lange, Treacher Collins, Marshall syndrome, Stickler syndrome, the Robin sequence and 22q11 deletion.3
Rheumatology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Clarissa Pilkington, Kiran Nistala, Helen Lachman, Paul Brogan
PFAPA was first described in 1987 (as Marshall syndrome). It has an unknown aetiology, and the epidemiology is poorly described. PFAPA is the commonest periodic fever syndrome in childhood. It is unlikely to be due to a single gene. Diagnosis is clinical, in the absence of evidence of recurrent upper respiratory tract infections or cyclic neutropenia: regular recurrent fever of early onset.oral aphthous ulcers.cervical lymphadenopathy.pharyngitis.Treatment:single dose of corticosteroid (1–2 mg/kg) given at the start of an attack. tonsillectomy: approximately 50% success reported.colchicine or anakinra may be useful but have an unpredictable response.Prognosis is good; most outgrow their symptoms by adolescence.
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family
Published in Ophthalmic Genetics, 2022
Vanita Berry, Kaoru Fujinami, Kiyofumi Mochizuki, Takeshi Iwata, Nikolas Pontikos, Roy A. Quinlan, Michel Michaelides
Pediatric cataract is a genotypically and phenotypically heterogeneous condition causing visual impairment either from birth or in early infancy. The full spectrum of congenital cataract-causing genes can be found here https://cat-map.wustl.edu/ (1,2). In this study, we have identified two heterozygous variants, LIM2 p.R130C and COL11A1 p.P1263 L, in a Japanese family with non-syndromic congenital cataract. As previously reported, LIM2 c.388C>T; p.R130C is predicted to be pathogenic and damaging at both a bioinformatic and a structural level (3), while COL11A1 p.P1263 L is of unknown significance (VUS). It is a rare variant in many ethnicities, but in the Japanese population, COL11A1 p.P1263 L has an allele frequency of 0.006. LIM2 variants have been associated with autosomal dominant, autosomal recessive, and age-related cataracts. Collagen’s importance in ocular health is well-established, with disease-causing variants in collagen encoding genes being associated with high myopia, glaucoma, congenital cataracts, and syndromes such as Stickler syndrome and Marshall syndrome. Pathogenic variants in COL11A1 are known to cause both the Marshall and Stickler type 2 syndromes, rare autosomal dominant disorders (4) along with other ocular, orofacial, auditory, and skeletal manifestations (5). Common variants in COL11A1 are associated with angle-closure glaucoma in Asian populations (6). Here, for the first time, we report a heterozygous variant in LIM2 gene causing a non-syndromic autosomal-dominant congenital sutural/lamellar cataract in the Japanese population.
Extracellular Matrix Remodeling During Palate Development
Published in Organogenesis, 2020
Xia Wang, Chunman Li, Zeyao Zhu, Li Yuan, Wood Yee Chan, Ou Sha
Mutation of COL11A1 in human causes Marshall syndrome and Stickler syndrome type. 226 Col11a1 homozygote mice have craniofacial abnormalities including cleft palate, shortened head, and mandible, short limbs, protruding tongue et.al.39,40 The tongue protrusion is possible to obstruct palatal shelf elevation, contact, and fusion. However, the Col11a1 mutant palatal shelves can make contact and fuse when placed close to each other in organ culture.39 It indicates that Col11a1 may play a role in palate growth. Mutation of COL11A2 in human cause Stickler syndrome type 3 and Nance-Insley syndrome.26,41 However, inactivation of Col11a2 in mice does not lead to cleft palate, although other clinical features such as hearing loss and abnormal skeleton development replicate the human phenotypes.41,42
Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review
Published in Ophthalmic Genetics, 2020
Kirstine B. Boysen, Morten La Cour, Line Kessel
While we believe our results represent the best possible overview on the ocular manifestations of Stickler syndrome, some important issues should be considered. First, there is no general agreement on diagnostic criteria for Stickler syndrome and included studies used a wide range of diagnostic criteria, from genetic mutation detection over clinical features to vitreous anomalies. Some patients were identified via family members and others by presentation with a cleft palate. In about half of the included studies, ocular symptoms were used to identify patients with Stickler syndrome, which may have led to an overestimation of the prevalence of ocular findings. Second, the terminology has changed over the years and the definition of the syndrome has gone from including Wagner and Marshall syndrome patients to a single entity divided into several subtypes. Molecular genetic analyses play a more prominent role in more recent publications, but there is a discrepancy between patients diagnosed clinically and genetically, e.g. one study could only find a COL2A1 mutation in 100 patients of the 188 who fulfilled a set of diagnostic criteria (myopia, spontaneous RD, cleft palate, sensorineural hearing loss, arthropathy), while 11 patients with a COL2A1 mutation were identified among 90 patients who did not meet these clinical criteria (15). With the advancement of molecular genetic techniques, there is an increasing awareness that not all mutations are disease causing (79). In addition, molecular genetic techniques have evolved dramatically. Patients in older references may thus have been mislabelled as having a mutation when they did not have a pathogenic mutation, or not having a mutation when they did, in fact, have a mutation, simply because techniques have improved. Third, some aspects of Stickler syndrome are degenerative and may not be present in the youngest children. One study reported that among patients with a mutation in COL2A1 the lowest diagnostic scores, according to the clinical criteria suggested by Rose et al. 2005 (35), were found in children (34). Fourth, the age of patients and follow-up period varied between included studies which may have affected the estimates of retinal detachment risk and prevalence of cataract, glaucoma, and blindness. Fifth, of the total of 1840 patients, only 34 patients with a molecular genetic diagnosis of STL2 could be included contrasting to a total of 791 molecular genetically confirmed STL1 patients.