Results 131 to 140 of about 2,045 (160)

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia. [PDF]

Eur J Hum Genet
Sezer A, Oner SS, Saat H, Turan MG, Gungor T, Cevik S, Erol A, Yenisert F, Catalbas K, Ozbakir DH, Kocagil S, Cilingir O, Ergun MA, Kaplan OI.   +13 more
europepmc   +1 more source

Roberts syndrome with cystic hygroma: a rare clinical presentation of a rare syndrome. [PDF]

BMJ Case Rep
Begum A, Wagealla E, Bayoumi MAA, Khenyab N.   +3 more
europepmc   +1 more source

Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12-Related Disorders. [PDF]

Prenat Diagn
Ramachandran V, Chandler NJ, Gibbs A, Whitby E, Braham R, Christopher J, Mehta SG.   +6 more
europepmc   +1 more source

3M syndrome in Saudi Arabia: a case series study and literature review. [PDF]

Front Endocrinol (Lausanne)
Alhuthil R, Alsagheir A, Almslam M, Raed J, Barakat F, Murad S, Bin-Abbas B.   +6 more
europepmc   +1 more source

Classical Lissencephaly Associated With Dolichocephaly, Hair and Nail Defect

Brain and Development, 2006
We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth.
Claudio Celentano, Sabrina Buoni, Giuseppe Sabatino   +2 more
exaly   +5 more sources

A Case Presentation of Early Intervention With Dolichocephaly in the NICU: Collaboration Between the Primary Nursing Team and the Developmental Care Specialist

Neonatal Network: NN, 2008
Dolichocephaly, narrow width and long anterior-posterior cranial distance, is more commonly seen in preterm than in term infants. It seems to persist after NICU discharge and may be a marker for adverse neurodevelopment. This article reports a case of cranial molding in one extremely low birth weight infant. He was placed on a viscoelastic mattress and
Beth M McManus
exaly   +4 more sources

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Imerslund Syndrome With Dolichocephaly

Pediatric Hematology and Oncology, 1990
Imerslund syndrome is a rare autosomal recessive disorder of megaloblastic anemia as a result of selective vitamin B12 malabsorption associated with proteinuria. An Arabic Muslim family is described, with three children who had inherited selective vitamin B12 malabsorption with proteinuria.
M, Ben-Ami, E, Katzuni, A, Koren
exaly   +3 more sources

Dolichocephaly--a Source of Error in Serial Cephalometry.

BJOG: an International Journal of Obstetrics and Gynaecology, 1976
SummaryTwo patients are presented in whom ultrasonic cephalometry suggested intrauterine fetal growth retardation. The respective newborn infants were normally grown and had dolichocephaly with a normal head circumference. Dolichocephaly should be considered when cephalometry alone suggests a diagnosis of placental insufficiency.
M C, Houlton, D T, Brennan
exaly   +3 more sources