𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Lethal multiple pterygium syndrome: Report of a new case with hydranencephaly

✍ Scribed by Mbakop, A. ;Cox, J. N. ;Störmann, C. ;Delozier-Blanchet, C. D. ;Neri, Giovanni

Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
310 KB
Volume
25
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Lethal multiple pterygium syndrome: Sugg
Lethal multiple pterygium syndrome: Suggestion for a consistent pathological workup and review of reported cases
✍ Froster, Ursula G.; Stallmach, Thomas; Wisser, Josef; Hebisch, Gundula; Robbiani 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 186 KB 👁 2 views

We report on 2 brothers with lethal multiple pterygium syndrome (LMPS) born to nonconsanguineous parents as late spontaneous abortions. Both fetuses presented with massive nuchal edema, and facial anomalies including cleft palate and broad ribs. Apparently, several subgroups of LMPS exist. Different

Barber-Say syndrome: Report of a new cas
Barber-Say syndrome: Report of a new case
✍ Mazzanti, L.; Bergamaschi, R.; Neri, I.; Perri, A.; Patrizi, A.; Cacciari, E.; F 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

We present a girl with lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands. To our knowledge, she represents the fourth described case of Barber-Say Syndrome (BSS). BSS and ablepharon macrostomia syndrome (AMS) share common and distinctive clinical manifestations

Johnson-McMillin syndrome: Report of a n
Johnson-McMillin syndrome: Report of a new case with novel features
✍ Lisa J. Cushman; Wilfredo Torres-Martinez; David D. Weaver 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB

## Abstract ## BACKGROUND Johnson‐McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. It is inherited in an autosomal dominant manner; however, the causative gene has

Emberger syndrome—Primary lymphedema wit
Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases
✍ Sahar Mansour; Fiona Connell; Colin Steward; Pia Ostergaard; Glen Brice; Sarah S 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 233 KB

## Abstract Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. The lymphedema typically presents