Results 91 to 100 of about 373,896 (335)

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim   +2 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Cleft Lip and Palate Literature Review Compilation [PDF]

open access: yes, 2015
poster abstractThe purpose of this review is to provide a summary of the cleft lip or palate procedure with a focus on human anatomy and physiology. Cleft lip and palate are the most common facial malformations and occur in 1 newborn in 2500 live births.
Khan, Abdul Karim, Yard, Michael
core  

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson   +2 more
wiley   +1 more source

Synapsids and sensitivity: Broad survey of tetrapod trigeminal canal morphology supports an evolutionary trend of increasing facial tactile specialization in the mammal lineage

open access: yesThe Anatomical Record, EarlyView.
Abstract The trigeminus nerve (cranial nerve V) is a large and significant conduit of sensory information from the face to the brain, with its three branches extending over the head to innervate a wide variety of integumentary sensory receptors, primarily tactile.
Juri A. Miyamae   +4 more
wiley   +1 more source

LARIAN KUMPUL DANA BANTU PESAKIT SUMBING BIBIR DAN LELANGIT [PDF]

open access: yes, 2015
KUBANG KERIAN, 17 Mei – Lebih 400 orang mengambil bahagian dalam program ‘Run For Cleft’ kali ketiga anjuran Persatuan Sains Pergigian, Pusat Pengajian Sains Kesihatan (PPSG) untuk mengumpul dana yang akan disalurkan kepada ‘Cleft Lip and Palate ...
MPRC, Pusat Media & Perhubungan Awam
core  

Exposed weapons: A revised reconstruction of the facial anatomy and life appearance of the saber‐toothed cat Megantereon (Felidae, Machairodontinae)

open access: yesThe Anatomical Record, EarlyView.
Abstract Megantereon was a widespread saber‐toothed felid from the Pliocene and Pleistocene of the Old World and North America, but its rarity in the fossil record makes it complicated to restore its life appearance. Lack of complete specimens makes it necessary to combine information from fossils of different individuals to reconstruct their facial ...
Mauricio Antón   +4 more
wiley   +1 more source

Statistical Analysis Of 750 Cleft Lip And Palate Patients [PDF]

open access: hybrid, 1968
S. Dawson Theogaraj   +3 more
openalex   +1 more source

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