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Choanal atresia
Published in Prem Puri, Newborn Surgery, 2017
Mira Sadadcharam, John D. Russell
The transpalatal approach was the first approach to the choanal abnormality that provided good exposure of the operative field. Together with simple blind dilatation, it remained the mainstay of surgical repair until the advent of endoscopic technology and techniques. In this procedure, a U-shaped incision is made over the hard palate 5 mm from the dental arch. A posteriorly based subperiosteal flap is elevated to gain access to the nasopharynx. The inferior vomer is encountered and removed prior to drilling of the lateral atretic plate. This technique remains useful in patients with a small nasopharynx and low skull base, such as infants with Treacher Collins syndrome, or where an endoscopic approach has failed. The transpalatal approach is associated with a higher complication rate compared to endoscopic techniques. Potential complications include postoperative pain, palatal fistula, and reduced midface face growth leading to a high arched palate and associated dental malocclusion, which occurs in approximately 50% of patients.5
Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency
Published in Fetal and Pediatric Pathology, 2021
Ceren Damla Durmaz, Şule Altıner, Elifcan Taşdelen, Halil Gürhan Karabulut, Hatice Ilgın Ruhi
The patient, a two-year-old boy, was referred to us because of his growth hormone deficiency, developmental delay, ID, short stature and facial dysmorphisms. He was born at term by cesarean section after uncomplicated pregnancy with a birth weight of 2650 g. He is the third child of a consanguineous parents and he has two healthy brothers. Vesicoureteral reflux was detected prenatally but his parents did not give consent for prenatal genetic study. His motor milestones were delayed as he sat unsupported at the age of 11 months and walked unaided at the age of 22 months. Clinical examination showed dysmorphic features such as large-posteriorly rotated ears, prominent nasal bridge, smoothened philtrum, high-arched palate, downturned corners of the mouth, thin upper lip, short neck and proximally placed thumbs (Figure 1a,b). On developmental assessment, motor developmental and speech delay was noticed. His height was 93 cm (25th percentile), his weight was 13.8 kg (25th percentile), and his head circumference was 46 cm (3rd percentile).
Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?
Published in Acta Clinica Belgica, 2020
An-Sofie Van De Kelft, Charlotte Lievens, Katya De Groote, Laurent Demulier, Julie De Backer, Guy T’Sjoen, Margarita Craen, Bert Callewaert, Jean De Schepper
Table 2 gives an overview of the recorded physical stigmata. The number of stigmata observed in the studied patients ranged between 2 and 22 (median 9). High arched palate, short neck and neck webbing were the most frequently observed head and neck abnormalities, found in respectively 81.8%, 59.1% and 59.1% of patients. The number of stigmata correlated negatively (r = – 0. 589; p < 0.001) with age at diagnosis. The median (range) age at diagnosis was significantly lower in those with a more severe dysmorphism (low = 15 (0–43) years vs intermediate-high = 8.5 (0–46) years; p < 0.05). The severity of dysmorphism was not associated with the studied body disproportion parameters. No significant association between craniofacial score, thoracic score, the limb score, the presence of short neck or neck webbing and the occurrence of chronic diseases was found. However, AHT was more prevalent in those TS women with a higher overall severity score (p = 0.043). No association could be found between dysmorphic ears and SNHL (data not shown).
Centronuclear myopathy: advances in genetic understanding and potential for future treatments
Published in Expert Opinion on Orphan Drugs, 2018
DNM2-CNM most often manifests in mild forms with onset in adolescence or adulthood. However, early-onset and more severe forms are also observed. In mild forms with late onset, there is frequent involvement of the distal muscles of the legs in association with more global proximal muscle involvement [7,62,87–91]. In the legs the most affected distal muscles are the gastrocnemius and eventually the muscles of the anterior compartment [88,91–93]. The course of the disease tends to be stable or slowly progressive with exceptional gait loss. In these cases, craniofacial involvement when present tends to be milder, usually with mild ptosis [93]. Osteoskeletal deformities include spinal deformities and mild joint contractures in the Achilles tendon. Restrictive respiratory insufficiency may occur during the course of the disease [93]. In the early-onset form, children present neonatal hypotonia with weak suckling, ophthalmoparesis, ptosis and masticatory muscle weakness [94–96]. Despite the severity, some of these children have progressive improvement [94] or even evolve satisfactorily into adult life [97]. Some patients have neonatal signs followed by improvement and late childhood reemergence of slowly progressive generalized muscle weakness and restrictive respiratory insufficiency [96]. In these cases, the main clinical manifestations include elongated face, ptosis, ophthalmoparesis, facial weakness, high-arched palate, micrognathia, generalized muscle atrophy, pectus excavatum, scoliosis, and joint contractures [96]. There is no cardiologic involvement in DNM2-CNM.