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Diamond–Blackfan Anemia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Congenital malformations occur in about 50% of patients and often affect: (i) head and face (50% of cases; microcephaly; hypertelorism, epicanthus, ptosis; microtia, low-set ears; broad, depressed nasal bridge; cleft lip/palate, high-arched palate; micrognathia; low anterior hairline), (ii) eye (congenital glaucoma, congenital cataract, strabismus), (iii) neck (webbing, short neck), (iv) upper limb and hand including thumb (38% of cases; absent radial artery, flat thenar eminence, triphalangeal/duplex/bifid/hypoplastic/absent thumb), (v) genitourinary (19% of cases; absent kidney, horseshoe kidney, hypospadias), (vi) heart (15% of cases; ventricular septal defect, atrial septal defect, coarctation of the aorta, other cardiac anomalies), and (vii) growth (25%–30% of cases; low birth weight, growth retardation/short stature) (Figures 67.1 and 67.2) [20–22].
Craniofacial Surgery
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
Benjamin Robertson, Sujata De, Astrid Webber, Ajay Sinha
Saethre–Chotzen syndrome was first described in 1931. This is an extremely variable autosomal dominant condition, although abnormalities may be milder than in other syndromic craniosynostosis conditions. Because of this, a mildly affected parent may not be aware that they also have the condition until after their more obviously affected child is diagnosed. The most commonly affected suture is the coronal suture and the craniofacial abnormalities are frequently asymmetric. Associated features may include ptosis, a low anterior hairline, small ears with a prominent horizontal crus, mild cutaneous syndactyly and broad thumbs and great toes. Mutations in the gene TWIST1 cause Saethre–Chotzen syndrome but the phenotype has also been seen in association with the Pro250Arg mutation in FGFR3 and with TCF12 mutations.43–45
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
Clinical features: typical facial features: low anterior hairline, downslanting palpebral fissures, prominent beaked nose, prominent columella, high palate, grimacing smile, micrognathiabroad, abnormally deviated, occasionally bifid thumbs and great toes, polydactyly, broad terminal phalanges of the other fingersprenatal growth and auxological parameters at birth are usually normalother common findings: coloboma, cataract, hearing loss, congenital heart defects (33%), renal abnormalities, cryptorchidismpolyhydramnios has been describedoccasionally agenesis of the corpus callosum.
Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2
Published in Orbit, 2022
Matthew A. De Niear, James J. Law, Ty W. Abel, Louise A. Mawn
A 4-year-old Hispanic female with multiple eyelid colobomas and epithelial abnormalities associated with a mutation in the TWIST2 gene was referred ophthalmology for reconstruction of the patient’s eyelids. The patient was noted in infancy to have structural anomalies of the eyelids and ears and was initially evaluated by genetic medicine at 2 months of age. At the time of initial examination, the patient was noted to have the following: multiple notches of the upper and lower eyelids bilaterally suggestive of shallow colobomas, brown pigmented discoloration of the upper eyelids, a pit lateral to the palpebral fissure bilaterally, small low set auricles with incomplete development of the superior helix and over folding of the superior helix, a low anterior hairline, a large hyperpigmented patch extending from the posterior neck to the sacral area with horizontal creases over the lower back, and hyperpigmentation creasing of axillary skin. The remainder of the patient’s physical exam was otherwise unremarkable, and she otherwise exhibited normal growth and development.
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
Published in Ophthalmic Genetics, 2018
Warburg Micro Syndrome (MIM 600118, 614225, 615222, 615663) is a extremely rare autosomal recessive disease characterized by congenital cataract, microcornea, microphtalmia, microcephaly, severe mental retardation, developmental delay, structural brain anomalies, spasticity leading to contracture and hypothalamic hypogonadism. In addition, patients present large and asymmetric ears, low anterior hairline, hypotonia, minimal to absent speech and overlapping toe. Warburg Micro syndrome was first described in a Pakistani family in 1993 (1). This syndrome characterized by a mutation of RAB3GAP1 gene on chromosome 2q21.3, RAB3GAP2 gene on chromosome 1q41, RAB18 gene on chromosome10p21.1 and TBC1D20 gene on chromosome 20p13 (2,3). To date, more than 70 human Rab proteins (which apply to the Ras family of small G proteins) have been identified and they are regulators of exocytosis of hormones and brain neurotransmitter. Rab3 proteins are essential for functional brain and eye development. The task of this protein family is to participate in neurodevelopmental transaction like differentiation, migration and reproduction (4). The mutations observed in RAB3GAP1 and RAB3GAP2 are the most common cause of Warburg Micro syndrome. RAB3GAP alters active Rab3-GTP to the inactive -GDP form . RAB3GAP1 composes the heterodimeric complex RAB3GAP along with RAB3GAP2. RAB3GAP1 is the catalytic subunit of this complex, while RAB3GAP2 is the non-catalytic unit. RAB3GAP2 is a 35 exon gene that codifies 1393 amino acid protein (5). Approximately, 150 families of the Warburg Micro syndrome and about less than 100 mutations have been identified to date. Most of mutations are associated with RAB3GAP1 (http://www.hgmd.org).