1/149. patients with CHARGE association: a model to study saccular function in the human. The term CHARGE association refers to a combination of congenital malformations, the mnemonic CHARGE designating the most frequently occurring anomalies in the constellation. "C" indicates coloboma of the retina, "H" heart defects, "A" choanal atresia, "R" retarded growth and/or central nervous system anomalies, "G" genital hypoplasia, and "E" ear anomalies and/or deafness. The inner ear anomaly consists of a specific form of labyrinthine dysplasia that includes Mondini dysplasia of the pars inferior (cochlea and saccule) and complete absence of the pars superior (utricle and semicircular canals). We observed the development of a child with CHARGE association up to the age of 10 years. There was complete absence of nystagmic response to bithermal caloric and rotatory pendular stimuli. A nystagmic reaction was elicited by the off-vertical axis rotation test, indicating stimulation of the saccular macula, the sole remaining vestibular sense organ in this dysplasia. This reaffirms that the saccule is a vestibular organ, even though it is located in the pars inferior. In spite of the severe bilateral vestibular deficit and coloboma of the retina, the child was able to walk at the age of 2 years. The delay in the development of walking was not due to central nervous system anomalies, as suggested by the "R" of the acronym CHARGE, but rather, to the severe sensorineural visual and vestibular deficits. ( info) |
2/149. methimazole embryopathy: delineation of the phenotype. We report on a further case of congenital anomalies in a child exposed to methimazole during the first trimester of pregnancy (from first to seventh gestational week), and define a specific malformation pattern related to prenatal methimazole exposure and consisting of choanal and esophageal atresia, scalp defects, minor facial anomalies and psychomotor delay. ( info) |
3/149. A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome? We report on a child we believe may have the same condition described in five children by Burn et al., in 1992 (Clin Dysmorphol 1:137-144). Component manifestations include choanal atresia, cardiac defects, prominent ears, hearing loss, and minor facial anomalies. Our patient also has rather significant short stature, thus adding to the variable phenotype of this condition. ( info) |
4/149. Choanal and ileal atresia: a new syndrome or association? choanal atresia is a relatively common congenital malformation which is often associated with other anomalies. On the other hand, ileal atresia is very rare, mostly nonsyndromic and occasionally associated with other anomalies. The association of choanal and ileal atresia is unknown. Here we report the first instance of bilateral choanal atresia and ileal atresia in a full term male infant and describe the subsequent surgical treatment of both conditions. The association is unique and may represent a syndrome. ( info) |
5/149. Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia. A male infant with a deletion of 9p and concomitant duplication of 4q: 46,XY, der(9)t(4;9)(q27;p24), is described. Parental chromosome analysis showed a balanced maternal translocation. To our knowledge, the above cytogenetic and clinical abnormalities have not been described previously. A phenotype comparison is presented with previously reported cases concerning a deletion of 9p and a duplication of 4q. ( info) |
| We present a 3-year-old child with clinical features of ectodermal dysplasia comprising sparse hair, dystrophic and ridged nails and bilateral obstruction of the nasolacrimal ducts. Additional findings were unilateral choanal atresia, bilateral syndactyly of the feet and polydactyly. We discuss the differential diagnosis of these clinical findings. ( info) |
7/149. Intracranial malposition of a nasogastric tube following repair of choanal atresia. Intracranial penetration during attempted nasogastric intubation is a rare, often lethal occurrence. We report the inadvertent introduction of a nasogastric tube intracranially in a neonate following repair of unilateral choanal atresia. Following manual removal of the tube, the patient made a good recovery. ( info) |
8/149. Facio-genito-popliteal syndrome presenting with bilateral choanal atresia and maxillary hypoplasia. The most classic characteristics of facio-genito-popliteal syndrome are cleft lip and/or palate, anomalies of the external genitalia and popliteal pterygium. A case of facio-genito-popliteal syndrome with bilateral choanal atresia and maxillary hypoplasia is presented. No previous report of such an association was found in the literature. ( info) |
9/149. Surgical treatment of choanal atresia in CHARGE association: case report with long-term follow-up. A patient affected by a multisystem malformation, the CHARGE association, is described. The choanal atresia is one of the stigmata characterizing this syndrome. The main anomalies of the association, the surgical correction (choanoplasty with endoscopic transnasal approach followed by the application of nasal stenting) and a comparison with different techniques are reported. ( info) |
10/149. AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. Among the ectodermal dysplasias, there are several examples of overlapping phenotypes in disorders that are considered distinct. We report a 5-year-old boy born to nonconsanguineous parents and presenting with ectodermal dysplasia, ankyloblepharon filiforme adnatum, and bilateral choanal atresia consistent with the diagnosis of AEC syndrome. We compare the findings in our patient with the previous reported cases and discuss the overlapping phenotype of this disorder with CHAND syndrome. ( info) |