✦ LIBER ✦

Atypical manifestations of two cases of trisomy 9 syndrome: Rethinking development delay

✍ Scribed by Saneto, Russell P.; Applegate, Kimberly E.; Frankel, David G.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 13 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981102)80:1<42::aid-ajmg7>3.0.co;2-s

No coin nor oath required. For personal study only.

✦ Synopsis

Trisomy 9 syndrome is characterized by ''bulbous'' nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous systems. With the exception of one reported case study, all surviving infants have had severe mental impairment. The prospect of severe mental retardation often overwhelms parents who are faced with prenatal diagnosis of trisomy 9. We report on two new cases of mosaic trisomy 9, both of whom are only mildly developmentally delayed. One patient presented with the distinctive facial appearance, large fontanels, and joint abnormalities. The other had none of the typical congenital abnormalities. However, the patient was found to have a congenital heart defect and hypoplastic left heart syndrome, which to our knowledge has not been reported previously in the trisomy 9 syndrome. When these two patients are added to the published patients with this syndrome, there appears to be a range of manifestations, especially with respect to mental status, which has not fully been recognized. Am.

📜 SIMILAR VOLUMES

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

Case of partial trisomy 2q3 with clinica

Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome

✍ Seidahmed, M. Zein; Rooney, D.E.; Salih, M.A.M.; Basit, O. Bashir Abdel; Shaheed 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified

Atypical case of Smith-Lemli-Opitz syndr

Atypical case of Smith-Lemli-Opitz syndrome: Implications for diagnosis

✍ Angle, Brad; Tint, G.S.; Yacoub, Oraib A.; Clark, Ann L. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 2 views

Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder comprised of recognizable facial abnormalities, growth retardation, and multiple congenital anomalies, commonly involving genitalia, second and third toe syndactyly, and cleft palate. The condition is associated with hypocholesterol

The Manifestation Manifesto

✍ Forbes Robbins Blair 📂 Fiction 📅 2014 🏛 New Creations 🌐 English ⚖ 36 KB 👁 8 views

The Manifestation Manifesto

✍ Blair, Forbes Robbins 📂 Fiction 📅 2014 🏛 New Creations 🌐 English ⚖ 36 KB 👁 8 views

Sindrome atipica

✍ Palmer, Michael;Deppisch, Marina 📂 Fiction 📅 2003 🏛 Sperling & Kupfer 🌐 Italian ⚖ 245 KB

Il dottor Rutledge ha la certezza che ci sia qualcosa di sospetto nelle morti dei suoi pazienti. Troppe banali influenze degenerate in incomprensibili complicanze non hanno lasciato scampo ai malati. L'uomo nutre un sospetto: che nell'evoluzione fatale delle malattie sia coinvolto il giacimento di c