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These case reports discuss the cases of 2 related Irish families with clinically severe carbonic anhydrase II deficiency syndrome deficiency in whom the gene mutation has been fully elucidated
Abstract:
Carbonic anhydrase II (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-base homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification with associated developmental delay. It is inherited in an autosomal recessive fashion and found most frequently in the Mediterranean more...
International Classification:
Syndrome
Categories:
Carbonic anhydrase II deficiency syndrome
Geography:
Republic of Ireland
Blood,
Vol: 97 Page: 1947-50 April 2001
C. McMahon; A. Will; P. Hu; G. N. Shah; W. S. Sly; O. P. Smith
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This article reviewed the epidemiology, aetiology, and natural history of middle ear disease in children with cleft palate
Abstract:
Otitis media with effusion is a common finding in children with cleft palate. However, although middle ear effusions have been reported to be almost universal among infants with cleft palate, less is known regarding the epidemiology, natural history, and outcome of middle ear disease among older children with cleft palate. Furthermore, considerable controversy surrounds the management more...
Geography:
Republic of Ireland
Rev Laryngol Otol Rhinol (Bord),
Vol: 124 Page: 171-7 2003
P. Sheahan; A. W. Blayney
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The aim of this study was to describe the incidence and natural history of middle ear disease in children with congenital velopharyngeal insufficiency without cleft palate
Abstract:
OBJECTIVE: To examine the incidence and natural history of middle ear disease in children with congenital velopharyngeal insufficiency (VPI) without cleft palate. SETTING AND SUBJECTS: Children with congenital VPI attending the combined cleft clinic at a tertiary cleft center. The diagnosis of congenital VPI in all cases was confirmed be the observation of hypernasality, nasal air more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - congenital velopharyngeal insufficiency
Categories:
middle ear disease; congenital velopharyngeal insufficiency
Geography:
Republic of Ireland
Cleft Palate Craniofac J,
Vol: 41 Page: 364-7 July 2004
P. Sheahan; I. Miller; M. J. Earley; J. N. Sheahan; A. W. Blayney
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This study reviewed the sequelae of otitis media with effusion among children with cleft lip and/or cleft palate
Abstract:
Otitis media with effusion (OME) is common among children with cleft palate, and may lead to such long-term consequences as hearing loss, tympanic membrane retraction, and chronic otitis media (COM). In total, 104 children with cleft lip and/or palate treated for OME at our institution were reviewed. Mean duration of follow-up was 6.9 years, and mean age at latest follow-up was 9.6 more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Cleft lip and cleft palate - Cleft lip and/or palate
Categories:
otitis media - cleft lip and/or cleft palate
Geography:
Republic of Ireland
Clin Otolaryngol Allied Sci,
Vol: 27 Page: 494-500 December 2002
P. Sheahan; A. W. Blayney; J. N. Sheahan; M. J. Earley
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