𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Apparently new “anophthalmia-plus” syndrome in sibs

✍ Scribed by Fryns, Jean-Pierre ;Legius, Eric ;Moerman, Philippe ;Vandenberghe, Kamiel ;Van den Berghe, Herman

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
166 KB
Volume
58
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

The index patient of this report is a 17-weekgestation female fetus with bilateral anophthalmia, bilateral cleft liplcleft palate, macrotia with bilateral lateral facial cleft, large open sacral neural tube defect, and uterus unicornis. Parents were normal and nonconsanguineous with an unremarkable family history. Their first child, a 4-year-old boy, is normal. The second child, a 2%-yearold boy, has bilateral anophthalmia and an abnormal left ear with absent lobule as the sole additional anomaly. These 2 sibs seem to be the first examples of a new "anophthalmia-plus" syndrome apparently inherited as autosomal-recessive.

📜 SIMILAR VOLUMES

Apparently new MCA/MR syndrome in sibs w
Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies
✍ Kapur, S. ;Toriello, H. V. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 310 KB 👁 1 views

W e report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chro

Progressive extrapyramidal disorder with
Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: A new syndrome?
✍ Devriendt, Koenraad; Legius, Eric; Fryns, Jean Pierre 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 1 views

We report on 2 sibs with consanguineous parents, and an identical progressive extrapyramidal movement disorder with onset in adolescence and associated with progressive alopecia and primary hypogonadism. To our knowledge, this syndrome has not been reported, and probably represents a newly recognize

Ophthalmological, skeletal, and cardiac
Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: A new syndrome?
✍ dos Santos, Rita de Cassia Stocco ;Castro, Nelson H. C. ;Ferraz, Oilita Pereira 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 294 KB 👁 2 views

We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of auto-so