✦ LIBER ✦

Intrafamilial variability of Pfeiffer-type cardiocranial syndrome

✍ Scribed by Digilio, Maria Cristina; Marino, Bruno; Borzaga, Umberto; Giannotti, Aldo; Dallapiccola, Bruno

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 18 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971231)73:4<480::aid-ajmg19>3.0.co;2-n

No coin nor oath required. For personal study only.

✦ Synopsis

We report on the occurrence of Pfeiffer-type cardiocranial syndrome in a brother and sister born to unaffected parents. The cardinal manifestations of the syndrome are congenital heart defect, sagittal craniosynostosis, genital anomalies, and mental and growth retardation. The craniosynostosis was present in only one of the sibs, suggesting intrafamilial variability of the syndrome. The clinical spectrum of cardiocranial syndrome is further expanded by the inclusion of renal, joint, and palpebral abnormalities detected in our patients. The occurrence of the syndrome in a brother-sister sib pair supports the hypothesis of an autosomal-recessive inheritance.

📜 SIMILAR VOLUMES

Pfeiffer syndrome type 2: Further deline

Pfeiffer syndrome type 2: Further delineation and review of the literature

✍ Plomp, Astrid S.; Hamel, Ben C.J.; Cobben, Jan M.; Verloes, Alain; Offermans, Jo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

We present 5 unrelated patients, 3 boys and 2 girls, with Pfeiffer syndrome (PS) type 2. They all had cloverleaf skull, severe proptosis, ankylosis of the elbows, broad thumbs and/or broad halluces and variable accompanying anomalies. We review the literature on all subtypes of PS. Most patients wit

Phenotype of the fibroblast growth facto

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III

✍ Gripp, Karen W.; Stolle, Catherine A.; McDonald-McGinn, Donna M.; Markowitz, Ric 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB

We present a patient with pansynostosis, hydrocephalus, seizures, extreme proptosis with luxation of the eyes out of the lids, apnea and airway obstruction, intestinal non-rotation, and severe developmental delay. His skeletal abnormalities include bilateral elbow ankylosis, radial head dislocation,

Favorable prognosis for children with Pf

Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: Implications for classification

✍ Robin, Nathaniel H.; Scott, Jennifer A.; Arnold, James E.; Goldstein, Jeffrey A. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 1 views

Pfeiffer syndrome (PS) is an autosomal dominant condition comprising bilateral coronal craniosynostosis, midface hypoplasia with a beaked nasal tip, and broad and medially deviated thumbs and great toes. It is a clinically variable disorder and has been divided into three subtypes [Cohen, 1993: Am J

Mutation producing alternative splicing

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability

✍ Zolezzi, F.; Valli, M.; Clementi, M.; Mammi, I.; Cetta, G.; Pignatti, P. F.; Mot 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 1 views

## We have characterized a familial form of osteogenesis imperfecta (OI) . Following the identification by ultrasound of short limbs and multiple fractures in a fetus at 25 weeks of gestation, the family was referred with a provisional diagnosis of severe OI. We detected subtle clinical and radiolo

Compound heterozygosity for a disease-ca

Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution inCOL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?

✍ Giunta, Cecilia; Steinmann, Beat 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB

The classical type of Ehlers-Danlos syndrome (EDS) is an autosomal dominant connective tissue disorder characterized by skin hyperelasticity, tissue fragility, and joint hypermobility. We investigated the molecular defect of EDS in a three-generation family. Cultured dermal fibroblasts from the prop

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