✦ LIBER ✦

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

✍ Scribed by G. R. Mortier; Ludwine M. Messiaen; Marc Espeel; Koen J. Smets; Bart D. Vanzieleghem; Frank Roels; Anne M. De Paepe

Publisher: Springer-Verlag
Year: 1998
Tongue: English
Weight: 484 KB
Volume: 28
Category: Article
ISSN: 0301-0449
DOI: 10.1007/s002470050466

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Fryns syndrome: A new variable multiple

Fryns syndrome: A new variable multiple congenital anomaly (MCA) syndrome

✍ Lubinsky, Mark ;Severn, Charles ;Rapoport, Joseph M. ;Opitz, John M. 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 347 KB 👁 2 views

A new case of maternal lupus-associated

A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies

✍ Thipwimol Tim-aroon; Suphaneewan Jaovisidha; Duangrurdee Wattanasirichaigoon 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 684 KB

Chondrodysplasia punctata (CDP) is an etiologically heterogeneous condition, characterized by stippled epiphyses [Poznanski, 1994;Chitayat et al., 2008]. CDP can be found as a non-specific finding in chromosome abnormalities and lysosomal storage disorders (such as GM1 gangliosidosis, I-cell disease

Congenital hypoplastic anaemia in a pati

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

✍ Mori, Pier Giorgio; Priolo, Manuela; Lerone, Margherita; Pasino, Mirella; Caroli 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingerna

A new X-linked multiple congenital anoma

A new X-linked multiple congenital anomalies/ mental retardation syndrome

✍ Golabi, Mahin ;Ito, Melani ;Hall, Bryan D. ;Opitz, John M. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 305 KB 👁 2 views

Possibly new multiple congenital anomaly

Possibly new multiple congenital anomaly syndrome: Cranio-fronto-nasal dysplasia with Poland anomaly

✍ Erdoğan, Bülent; Aköz, Tayfun; Görgü, Metin; Kutlay, Rohat; Dağ, Ferhan 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 324 KB 👁 2 views

We present a possibly new multiple congenital anomaly syndrome of craniosynostosis, Poland anomaly, cranio-fronto-nasal "dysplasia," and genital and breast anomalies. A similar pattern of anomalies was observed in two previous cases from the literature; however, some peculiar findings suggest that t

A new type of chondrodysplasia punctata

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

✍ B. T. Poll-The; P. Maroteaux; C. Narcy; P. Quetin; M. Guesnu; R. J. A. Wanders; 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 227 KB