scholarly journals A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II

2021 ◽  
Author(s):  
Haifeng Liu ◽  
Na Tao ◽  
Yan Wang ◽  
Yang Yang ◽  
Xiaoli He ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Homozygous Mutation ◽  
Type Ii ◽  
Primordial Dwarfism ◽  
Pcnt Gene

scholarly journals Ocular characteristics in a variant microcephalic primordial dwarfism type II

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Wan-Ju Chen ◽  
Fu-Chin Huang ◽  
Min-Hsiu Shih
Keyword(s):  
Female Subject ◽  
Clinical Manifestations ◽  
Macular Dystrophy ◽  
Type Ii ◽  
Nasal Bridge ◽  
Ocular Manifestations ◽  
Ocular Findings ◽  
Primordial Dwarfism ◽  
Pcnt Gene ◽  
High Hyperopia

Abstract Background Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is a rare disease that is assumed to be caused by a pericentrin (PCNT) gene mutation. Clinical manifestations have been reported in pediatrics and neurology; however, only a few ocular findings have been documented. Case presentation We present three unrelated cases of MOPD II with similar facial features and short stature. Unlike the cases described in the literature, all subjects had normal birth weight and height but their growth was retarded thereafter. In addition to delayed milestones, they have a broad forehead, maxillary protrusion, long peaked nose, high nasal bridge, low-set large ears, extreme reromicrogenia, and normal-sized teeth. These three patients had similar ocular manifestations with the short axial length associated with high hyperopia more than + 9 diopters (D) and macular scarring. The oldest subject was a 20 year-old male without neurological symptoms. One female subject had developed alopecia during the previous 2 years. The other female subject had moyamoya disease, but a genetic study revealed a normal PCNT gene. Conclusion This is the first report of MOPD II focusing on ocular findings, suggesting that macular dystrophy and high hyperopia are the common ocular characteristics of MOPD II. Prompt referral to an ophthalmologist is essential. Although refractive amblyopia can be treated with optical correction, visual prognosis may be poor due to maculopathy.

Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II

2021 ◽  
Vol 43 (2) ◽  
pp. 115-121
Author(s):  
Thu Hien Nguyen ◽  
Ngoc-Lan Nguyen ◽  
Chi Dung Vu ◽  
Can Thi Bich Ngoc ◽  
Ngoc Khanh Nguyen ◽  
...  
Keyword(s):  
Type Ii ◽  
Novel Mutations ◽  
Primordial Dwarfism

A new case of the osteodysplastic primordial dwarfism type II

1987 ◽  
Vol 26 (4) ◽  
pp. 819-824 ◽  
Author(s):  
Patrick J. Willems ◽  
Catrienus Rouwé ◽  
G. Peter A. Smit ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Type Ii ◽  
Primordial Dwarfism

A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient

2020 ◽  
Vol 31 (1) ◽  
pp. 71-76
Author(s):  
Siqi Liu ◽  
Shasha Luo ◽  
Lihong Yang ◽  
Yanhui Jin ◽  
Haixiao Xie ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Homozygous Mutation ◽  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency
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