✦ LIBER ✦

Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency

✍ Scribed by Elias, Ellen Roy; Mobassaleh, Munir; Hajra, Amiya K.; Moser, Ann B.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 22 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981116)80:3<223::aid-ajmg9>3.0.co;2-x

No coin nor oath required. For personal study only.

✦ Synopsis

We describe a 6 1/2-year-old-girl presenting with a unique phenotype and dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency (1.6% of control activity in cultured fibroblasts), a peroxisomal enzyme deficiency which was reported previously to cause rhizomelic chondroplasia punctata (RCDP). Her phenotype is less severe than that seen in classical RCDP, and is notable for short stature, microcataracts, normal limbs, mild hypotonia, and severe mental retardation. Epiphyseal stippling is present. This patient illustrates the variability of peroxisomal disorders whereby a specific defect in peroxisomal plasmalogen synthesis may lead to several phenotypes. Her case also suggests that children presenting with deficient growth, developmental delay, and epiphyseal stippling should be screened carefully for peroxisomal disorders, with measurement of plasmalogens in addition to very long chain fatty acids. Am.

📜 SIMILAR VOLUMES

Wrinkly skin syndrome and the syndrome o

Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder

✍ Zlotogora, Jo�l 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 2 views

X-linked dominant chondrodysplasia punct

X-linked dominant chondrodysplasia punctata: A peroxisomal disorder?

✍ Wilson, Callum J.; Aftimos, Salim 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 5 KB 👁 2 views

X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transiently abnormal peroxisomal function tests. We review t

Nephrotic syndrome, microcephaly, and de

Nephrotic syndrome, microcephaly, and developmental delay: Three separate syndromes

✍ Meyers, Kevin E.C.; Kaplan, Paige; Kaplan, Bernard S. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB 👁 2 views

We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or

Severe achondroplasia with developmental

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

✍ Bellus, Gary A.; Bamshad, Michael J.; Przylepa, Kelly A.; Dorst, John; Lee, Rola 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 2 views

We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) [Tavormina

Fragile X syndrome and an isodicentric X

Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development

✍ Freedenberg, Debra L.; Gane, Louise W.; Richards, Carolyn S.; Lampe, Megan; Hill 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

Plantar lipomatosis, unusual facial phen

Plantar lipomatosis, unusual facial phenotype and developmental delay: A new MCA/MR syndrome

✍ Pierpont, Mary Ella M.; Stewart, Fiona J.; Gorlin, Robert J. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 2 views

We describe two boys with global developmental delay and a phenotype of microcephaly, midface hypoplasia, enlarged fleshy ears, depressed nasal bridge, anteverted nostrils, central palatal ridge, and high forehead. Bilateral congenital fat pads are present anteromedial to the heels. Fetal finger and