J Clin Diagn Res. 2013 Sep; 7(9): 2031–2032. This article has been cited by other articles in PMC. Abstract Spondylocarpotarsal synostosis syndrome (SSS) is an autosomal recessive condition which is characterized by short stature, a carpotarsal coalition and a vertebral fusion, but without any rib anomaly. We are[…]
[ncbi.nlm.nih.gov]
Case report Open Access Published: 08 November 2010 Journal of Medical Case Reports volume 4, Article number: 354 (2010) Cite this article 10k Accesses 2 Citations Metrics details Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser[…]
[jmedicalcasereports.biomedcentral.com]
[…] folds in the corner of the eyes (epicanthal folds), asymmetry of the skull (cranial asymmetry), skin tag or pit in front of the ear (preauricular tag or pit), prominent triangular
[flipper.diff.org]
tag or pit in front of the ear (preauricular tag or pit), prominent triangular area of the forehead (glabella), scalp defects on the center of the back of the head, underdeveloped
[symptoma.com]
tag or pit in front of the ear (preauricular tag or pit) downturned mouth prominent triangular area of the forehead (glabella) scalp defects on the center of the back of
[wolfhirschhorn.org]
skin tags or blind fistulas; microtia, or other external ear malformations, middle and internal ear anomalies Unilateral facial hypoplasia, prominent forehead, hypoplasia
[cjhr.org]
[…] of the zygomatic area, and maxillar and mandibular hypoplasia Unilateral macrostomia Vertebral column anomalies such as synostosis and bifid spine. [2], [4] These above-mentioned
[cjhr.org]
Epibulbar dermoid or lipodermoid (mostly bilateral); colobomas of the upper eyelid, iris, choroidea, and retina, or other eye anomalies such as microphthalmia and anophthalmia Preauricular
[cjhr.org]
skin tags or blind fistulas; microtia, or other external ear malformations, middle and internal ear anomalies Unilateral facial hypoplasia, prominent forehead, hypoplasia
[cjhr.org]
[…] of the zygomatic area, and maxillar and mandibular hypoplasia Unilateral macrostomia Vertebral column anomalies such as synostosis and bifid spine. [2], [4] These above-mentioned
[cjhr.org]
Epibulbar dermoid or lipodermoid (mostly bilateral); colobomas of the upper eyelid, iris, choroidea, and retina, or other eye anomalies such as microphthalmia and anophthalmia Preauricular
[cjhr.org]