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Abnormality of the palpebral fissures

Known as: Abnormality of the opening between the eyelids, Deformity of the palpebral fissures, Malformation of the palpebral fissures 
An anomaly of the space between the medial and lateral canthi of the two open eyelids. [HPO:probinson]
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and…
Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue… 
2018
2018
Phenotype expansion and development in Kosaki overgrowth syndrome
We expand the Kosaki overgrowth syndrome (KOGS) phenotype by over 70% to include 24 unreported KOGS symptoms, in a first male… 
2012
2012
Nager syndrome: a case report.
Highly Cited
2010
Highly Cited
2010
A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations
We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the… 
Review
2006
Review
2006
New cases of Bohring–Opitz syndrome, update, and critical review of the literature
We report on four additional unrelated cases of Bohring–Opitz syndrome with the highly characteristic phenotype of facial… 
Highly Cited
2004
Highly Cited
2004
Accuracy of the clinical diagnosis of Down syndrome.
OBJECTIVES: To determine the accuracy of clinical diagnosis of Down syndrome, identify problems in reaching a diagnosis, to… 
Review
2003
Review
2003
Unreported manifestations in two Dutch families with Bartsocas–Papas syndrome
Bartsocas–Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most… 
Highly Cited
2002
Highly Cited
2002
Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.
Desmosterol (cholesta-5,24-dien-3beta-ol) is a minor sterol that forms as an intermediate in the cholesterol biosynthetic pathway… 
1991
1991
Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism
A patient is described with severe mental retardation, a peculiar face with small palpebral fissures and premature balding… 
1946
1946
Occurrence of multiple neuritis in cases of cutaneous diphtheria.
CUTANEOUS diphtheria is rarely seen in the temperate zone, but it is a common cause of disability among soldiers serving in the… 
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