✦ LIBER ✦

Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

✍ Scribed by Verloes, Alain; Lesenfants, Sylviane; Barr, Mason; Grange, Dorothy K.; Journel, Hubert; Lombet, Jacques; Mortier, Gert; Roeder, Elisabeth

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 107 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>3.0.co;2-d

No coin nor oath required. For personal study only.

✦ Synopsis

Otopalatodigital syndrome type 2 is an Xlinked disorder with minimal expression in carrier females and comprises typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes, brachydactyly, and impaired survival. Recently several other severe malformations were reported in the condition. Melnick-Needles syndrome is an X-linked dominant disorder. Affected males are usually sporadic cases. The exceptional males born to symptomatic women present with a lethal disorder comprising generalized osteodysplasia, deficiency of the first ray, and facial anomalies strikingly similar to those of otopalatodigital syndrome type 2. We report here on three boys with classical, severe, and lethal otopalatodigital type 2 syndrome, and three boys with severe (lethal) Melnick-Needles syndrome, born to affected mothers. We suggest that otopalatodigital type 1 and 2, Melnick-Needles syndrome and frontometaphyseal dysplasia, sharing many clinical manifestations and a similar mode of inheritance, are variants of the same condition: fronto-otopalatodigital osteodysplasia. The relationships to similar syndromes (i.e.,

📜 SIMILAR VOLUMES

Atypical skeletal changes in otopalatodi

Atypical skeletal changes in otopalatodigital syndrome type II: Phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome

✍ Nishimurae, Gen; Horiuchi, Takashi; Kim, Ok H.; Sasamoto, Yuka 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 1 views

We report on 2 cases of otopalatodigital syndrome type II (OPD II) with atypical skeletal changes, overlapping those of boomerang dysplasia, atelosteogenesis type I (AO I) and type III (AO III), and the lethal male phenotype of Melnick-Needles syndrome. One patient exhibited strikingly broad, bowed

Infant with manifestations of oto-palato

Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome

✍ Corona-Rivera, J. Rom�n; Corona-Rivera, Enrique; Corona-Rivera, Alfredo; Quiles- 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

The oto-palato-digital syndrome type II (OPD II), an X-linked semidominant multiple congenital anomalies syndrome with high male lethality (MIM 304120) and more than 100 anomalies reported in over 20 cases, shows phenotypic similarities to the X-linked dominant disorder described in males born to mo

Are Melnick-Needles syndrome and oto-pal

Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred

✍ Robertson, Stephen; Gunn, Tania; Allen, Bruce; Chapman, Cyril; Becroft, David 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB 👁 1 views

Melnick-Needles syndrome (MNS) is a female-limited skeletal dysplasia inherited in a X-linked dominant pattern. Males born to women with MNS may exhibit lethal multiple congenital anomalies, but recurrence of this phenotype within one family has not been reported. Males with oto-palato-digital syndr

Potential panic disorder syndrome: Clini

Potential panic disorder syndrome: Clinical and genetic linkage evidence

✍ Weissman, Myrna M.; Fyer, Abby J.; Haghighi, Fatemeh; Heiman, Gary; Deng, Zemin; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 2 views

This paper reports evidence for a possible "chromosome 13 syndrome," which includes panic disorder, kidney or bladder problems, serious headaches, thyroid problems (usually hypothyroid), and/or mitral valve prolapse (MVP). In the course of a genetic linkage study of panic disorder, we noted these me

Further evidence that the Hajdu-Cheney s

Further evidence that the Hajdu-Cheney syndrome and the ?serpentine fibula-polycystic kidney syndrome? are a single entity

✍ Ramos, Feliciano J.; Kaplan, Bernard S.; Bellah, Richard D.; Zackai, Elaine H.; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB

The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder. It comprises a coarse face, short neck, hirsutism, joint laxity, and normal intelligence. Bone dysplasias, include acro-osteolysis, bathrocephaly, and vertebral anomalies. In 1988, Exner [1988: Eur J Pediatr 147:544-546] coined t

Schwartz-Jampel syndrome type 2 and St�v

Schwartz-Jampel syndrome type 2 and St�ve-Wiedemann syndrome: A case for ?Lumping?

✍ Superti-Furga, Andrea; Tenconi, Romano; Clementi, Maurizio; Eich, Georg; Steinma 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 1 views

Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the Stu ¨ve-Wiedemann syndrome (SWS), which comprises