2007
DOI: 10.1002/ajmg.a.31796
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Abstract: We present two sibs with congenital disorder of glycosylation (CDG) type Id. Each shows severe global delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency. One sib has more severe digestive issues, while the other is more neurologically impaired. Each is compound heterozygous for a novel point mutation and an already known mutation in the ALG3 gene that leads to the synthesis of a severely truncated oligosaccharide precursor for N-glycans. The defect is corrected by … Show more

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Cited by 36 publications
(41 citation statements)
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“…Club feet and contractures of digits are frequently seen at birth (Denecke et al 2005;Schollen et al 2005;Sun et al 2005). Dysmorphic features are usually mild at birth, but seem to become quite characteristic with time: the facial appearance and especially the profile with a broad and flat nasal bridge, micrognathia, thin upper lip, triangular mouth, downslanting palpebral fissures, strabismus, and thickened, large, low-implanted ears are very similar in our patient and in the other photographically documented patients (Denecke et al 2005;Kranz et al 2007;Schollen et al 2005;Sun et al 2005); long and thin fingers seem to be typical (Kranz et al 2007;Sun et al 2005). Gastrointestinal symptoms such as recurrent vomiting (Denecke et al 2004(Denecke et al , 2005, diarrhoea and food intolerance (Kranz et al 2007) are described in some cases and our patient presented gastro-oesophageal reflux.…”
Section: Discussionsupporting
confidence: 73%
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“…Club feet and contractures of digits are frequently seen at birth (Denecke et al 2005;Schollen et al 2005;Sun et al 2005). Dysmorphic features are usually mild at birth, but seem to become quite characteristic with time: the facial appearance and especially the profile with a broad and flat nasal bridge, micrognathia, thin upper lip, triangular mouth, downslanting palpebral fissures, strabismus, and thickened, large, low-implanted ears are very similar in our patient and in the other photographically documented patients (Denecke et al 2005;Kranz et al 2007;Schollen et al 2005;Sun et al 2005); long and thin fingers seem to be typical (Kranz et al 2007;Sun et al 2005). Gastrointestinal symptoms such as recurrent vomiting (Denecke et al 2004(Denecke et al , 2005, diarrhoea and food intolerance (Kranz et al 2007) are described in some cases and our patient presented gastro-oesophageal reflux.…”
Section: Discussionsupporting
confidence: 73%
“…Microcephaly due to cerebral atrophy is mainly present at birth (Kranz et al 2007;Schollen et al 2005;Sun et al 2005) or develops in the first months of life as in the present patient (Denecke et al 2004(Denecke et al , 2005Kö rner et al 1999;Stibler et al 1995) and becomes progressively more evident in comparison with other growth parameters. An early-onset seizure disorder, often poorly controlled by antiepileptic medication, is present in nearly all patients (Denecke et al 2004(Denecke et al , 2005Kö rner et al 1999;Kranz et al 2007;Schollen et al 2005). Psychomotor retardation is usually severe with very little progress.…”
Section: Discussionsupporting
confidence: 50%
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