Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type

Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type

The cases of two patients with Robinow fetal face syndrome, an 11-year-old Thai boy and a newborn Caucasian girl, are described. The Thai boy had the characteristics typical of the dominant type of the syndrome with a few newly recognized signs, including communicating hydrocephalus, underdeveloped...

Saved in:

書目詳細資料
Main Authors:	Kantaputra PN., Gorlin RJ., Ukarapol N., Unachak K., Sudasna J.
格式:	Case Reports
語言:	English
出版:	2014
在線閱讀:	http://www.ncbi.nlm.nih.gov/pubmed/3502482 http://cmuir.cmu.ac.th/handle/6653943832/1110
標簽:	添加標簽沒有標簽, 成為第一個標記此記錄!

相似書籍

Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome
由: Kantaputra P.N., et al.
出版: (2014)

Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome
由: Kantaputra P.N., et al.
出版: (2014)

The Dominant Personality Type in Vertigo Patients
由: Nanda Rizky Fitriani Syahrudin, NIM011411133025, et al.
出版: (2014)

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
由: Zhang, Qian, et al.
出版: (2022)

Prenatal sonographic features of fetal atelosteogenesis type 1
由: Suchaya Luewan, et al.
出版: (2018)

Prenatal sonographic features of fetal atelosteogenesis type 1
由: Suchaya Luewan, et al.
出版: (2018)

Prenatal sonographic features of fetal atelosteogenesis type 1
由: Luewan S., et al.
出版: (2014)

Juberg-Hayward syndrome: a new case report and clinical delineation of the syndrome
由: Kantaputra PN., et al.
出版: (2014)

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
由: Hollstein, R, et al.
出版: (2020)

Clinical Correlate: CLCN7-Associated Autosomal Recessive Osteopetrosis
由: Piranit Nik Kantaputra
出版: (2018)

Clinical Correlate: CLCN7-Associated Autosomal Recessive Osteopetrosis
由: Piranit Nik Kantaputra
出版: (2018)

Fetal Warfarin syndrome
由: Achara Sathienkijkanchai, et al.
出版: (2018)

Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
由: Kantaputra P.N., et al.
出版: (2014)

Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
由: Kantaputra P.N., et al.
出版: (2014)

Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al
由: Kantaputra PN.
出版: (2014)

Dentinogenesis imperfecta-associated syndromes
由: Kantaputra P.N.
出版: (2014)

COL4A6 is dispensable for autosomal recessive Alport syndrome
由: Murata, T, et al.
出版: (2020)

Type of Dominant Personality in Coronary Artery Heart Disease Patients
由: Beny Prastyo, et al.
出版: (2019)

Laurin-Sandrow syndrome with additional associated manifestations
由: Kantaputra P.N.
出版: (2014)

A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: Report of a Thai family
由: Kantaputra P.N., et al.
出版: (2014)

Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient
由: Kayserili H., et al.
出版: (2014)

Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.
由: Kantaputra P.N.
出版: (2014)

Thyroid functions in children with Down's syndrome
由: Unachak K., et al.
出版: (2014)

Fetal fractures in an infant with maternal ehlers-danlos syndrome, ccdc134 pathogenic mutation and a negative genetic test for osteogenesis imperfecta
由: Michael F. Holick, et al.
出版: (2022)

Fetal cardiac manifestations of Marfan syndrome
由: Sanitra Anuwutnavin, et al.
出版: (2018)

Maternal Stimulation Upon Mother-Infant Face-to-Face Interaction
由: Perpustakaan UGM, i-lib
出版: (2006)

PARTIAL FACE IDENTIFICATION ON A LIMITED POSE TYPE AND SAMPLE FACE DATASET
由: Djamaluddin, Muhammad

Kaposi sarcoma in a Thai boy with acquired immunodeficiency syndrome
由: Pruksachatkunakorn C., et al.
出版: (2014)

Thyroid functions in children with Down's syndrome
由: Kevalee Unachak, et al.
出版: (2018)

Dominant factor determining the conduction-type of nitrogen-doped ZnO film
由: Li, L., et al.
出版: (2014)

Isang recess
由: Torralba, John Enrico C.
出版: (2007)

Dengue shock syndrome in an infant
由: Linda Aurpibul, et al.
出版: (2018)

Dengue shock syndrome in an infant
由: Aurpibul L., et al.
出版: (2014)

Dengue shock syndrome in an infant
由: Linda Aurpibul, et al.
出版: (2018)

Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger induce distinct trafficking defects in MDCK cells
由: Emmanuelle Cordat, et al.
出版: (2018)

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome?
由: Kantaputra P.N., et al.
出版: (2014)

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome?
由: Kantaputra P.N., et al.
出版: (2014)

Pathogenesis and Treatment of Usher Syndrome Type IIA
由: Zaw K.
出版: (2023)

Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family
由: Kantaputra PN., et al.
出版: (2014)

The making of boys will be boys
由: Mok, Shannen, et al.
出版: (2019)