Results 171 to 180 of about 16,064 (227)

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype. [PDF]

Clin Dysmorphol
Pakhathirathien P, Vaseenon H, Thammachote W, Songpatanasilp C, Sinpitak P, Tocharoentanaphol C, Jinawath N, Wattanasirichaigoon D.   +7 more
europepmc   +1 more source

Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly. [PDF]

Hum Genome Var
Wakabayashi H, Matsumoto A, Komori S, Goto M, Tajima T, Sasaki A, Matsumura T, Yamagata T.   +7 more
europepmc   +1 more source

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Orbital Hypertelorism

Clinics in Plastic Surgery, 1994
Excessive distance between the orbits is only one manifestation of a complex deformity that affects several skeletal and soft-tissue structures. This article discusses the classification, preoperative planning, and surgical procedures used in the reconstruction of orbital hypertelorism.
F, Ortiz-Monasterio, F, Molina
openaire   +2 more sources

Orbital Hypertelorism

Clinics in Plastic Surgery
Orbital hypertelorism may be seen in isolation or more commonly within the context of other congenital craniofacial dyscrasias such as craniosynostosis, midface hypoplasia, exorbitism, atypical orofacial clefting, and malocclusion. Careful consideration of the preoperative cranial, orbital, and midface phenotypes, as well as the time of intervention ...
Alexis, Tashima, Colin, Brady
openaire   +2 more sources

Hypospadias-hypertelorism syndrome

The Indian Journal of Pediatrics, 2000
A young male child presented with hypospadias. Examination revealed additional anomalies including hypertelorism and upslanting of palpebral fissures, suggesting a diagnosis of hypospadias-hypertelorism syndrome. The case is reported because of its rarity and some unusual features.
J S, Goraya, A S, Bawa, S, Bharti
openaire   +2 more sources

Hypertelorism-Hypospadias Syndrome

Journal of Urology, 1984
The hypertelorism-hypospadias syndrome has been reported previously in 19 affected male patients. In addition, 21 affected boys in 16 families have been evaluated at our center. Genitourinary anomalies other than hypospadias were observed frequently and included cryptorchidism, vesicoureteral reflux and minor upper urinary tract variations.
H N, Noe, J N, Peeden, G R, Jerkins, R S, Wilroy   +3 more
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Hypertelorism in Neurofibromatosis

Neuropediatrics, 1986
In eight out of thirty-four patients with neurofibromatosis hypertelorism was seen. This hypertelorism was diagnosed by measuring the intercanthal distance and calculating the interpupillary distance from it. The high incidence of hypertelorism in our group of patients (24%) makes its direct association with neurofibromatosis feasible.
E C, Wolters, W, Westerhof, J W, Delleman, P, Dijkstra   +3 more
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Orbital Hypertelorism

Atlas of the Oral and Maxillofacial Surgery Clinics, 2022
Stavan Y, Patel, Ghali E, Ghali
openaire   +2 more sources