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Autor: K W, Gripp, E H, Zackai, C A, Stolle

Publikováno v: Human mutation. 15(2)

Saethre-Chotzen syndrome is a relatively common craniosynostosis disorder with autosomal dominant inheritance. Mutations in the TWIST gene have been identified in patients with Saethre-Chotzen syndrome. The TWIST gene product is a transcription facto

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https://pubmed.ncbi.nlm.nih.gov/10649491

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Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother

Autor: K W, Gripp, M, Barr, G, Anadiotis, D M, McDonald-McGinn, S A, Zderic, E H, Zackai

Publikováno v: American journal of medical genetics. 82(5)

A male patient with aphallia, anal stenosis, tetralogy of Fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aph

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https://pubmed.ncbi.nlm.nih.gov/10069704

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TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome

Autor: K W, Gripp, C A, Stolle, L, Celle, D M, McDonald-McGinn, L A, Whitaker, E H, Zackai

Publikováno v: American journal of medical genetics. 82(2)

The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents wit

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https://pubmed.ncbi.nlm.nih.gov/9934984

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

Autor: K W, Gripp, C A, Stolle, D M, McDonald-McGinn, R I, Markowitz, S P, Bartlett, J A, Katowitz, M, Muenke, E H, Zackai

Publikováno v: American journal of medical genetics. 78(4)

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 b

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https://pubmed.ncbi.nlm.nih.gov/9714439

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Lateral meningocele syndrome: three new patients and review of the literature

Autor: K W, Gripp, C I, Scott, H E, Hughes, R, Wallerstein, L, Nicholson, L, States, L D, Bason, P, Kaplan, S A, Zderic, A C, Duhaime, F, Miller, M R, Magnusson, E H, Zackai

Publikováno v: American journal of medical genetics. 70(3)

One female and two male patients with multiple lateral meningoceles are presented. They do not have neurofibromatosis or Marfan syndrome and share findings with the two previously described patients with multiple lateral meningoceles. The original re

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https://pubmed.ncbi.nlm.nih.gov/9188658

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Nasal dimple as part of the 22q11.2 deletion syndrome

Autor: K W, Gripp, D M, McDonald-McGinn, D A, Driscoll, L A, Reed, B S, Emanuel, E H, Zackai

Publikováno v: American journal of medical genetics. 69(3)

The phenotype of the 22q11.2 microdeletion syndrome is quite variable. We describe 2 patients with a 22q11.2 deletion and a dimpled nasal tip, which, we suggest can be the extreme of the broad or bulbous nose commonly found in the 22q11.2 deletion sy

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https://pubmed.ncbi.nlm.nih.gov/9096759

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Extending the spectrum of distal arthrogryposis

Autor: K W, Gripp, C I, Scott, B C, Brockett, L, Nicholson, W G, Mackenzie

Publikováno v: American journal of medical genetics. 65(4)

We describe a mother and son with multiple, non-progressive, congenital contractures, camptodactyly and absent flexion creases, expressionless face, blepharophimosis, microstomia, and short stature. Although these cases share similarities with the au

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https://pubmed.ncbi.nlm.nih.gov/8923937

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Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld syndrome

Autor: K W, Gripp, C I, Scott, L, Nicholson

Publikováno v: Clinical dysmorphology. 5(4)

A patient with Ellis-van Creveld (EvC) syndrome and bilateral duplication of the primary ulnar ossification center is presented. Abnormal ossification involving secondary ossification centers of the femur and tibia as well as duplication of primary o

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https://pubmed.ncbi.nlm.nih.gov/8905199

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Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation

Autor: K W, Gripp, L, Nicholson, C I, Scott

Publikováno v: American journal of medical genetics. 61(4)

We describe a previously unrecognized syndrome in two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, skeletal changes, postnatal short stature, and mental retardation.

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https://pubmed.ncbi.nlm.nih.gov/9188678

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