Tonsillar fat herniation: A novel finding in Goltz syndrome
نویسندگان
چکیده
منابع مشابه
Goltz syndrome: A case report
Goltz syndrome / Focal Dermal Hypoplasia (FDH) is a rare syndrome resulting from developmental defects in tissues with mesodermal origin such as eye, skin, mouth, muscoloskeletal, and central nervous system. We report a 13-year-old girl with FDH who had several features of skin, eye, and mouth involvement. She also had revurrent otitis media, which has not been reported so far.
متن کاملGoltz syndrome: a case report from Iran
Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis involving all three embryonic layers. Herein, the first case of this syndrome from Iran will be reported. The main clinical features were fat herniation, reticulate pigmentations, telangiectasia, and skeletal defects.
متن کاملSpontaneous dural tear leading to intracranial hypotension and tonsillar herniation in Marfan syndrome: a case report
BACKGROUND We describe the case of a 38 year old male with Marfan syndrome who presented with orthostatic headaches and seizures. CASE PRESENTATION The patient was diagnosed with Spontaneous Intracranial Hypotension secondary to CSF leaks, objectively demonstrated by MR myelogram with intrathecal contrast. Epidural autologous blood patch was administered at the leakage site leading to signifi...
متن کاملGorlin-Goltz Syndrome
The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multi...
متن کاملAsymptomatic tonsillar herniation in a neonate with cleidocranial dysplasia.
A male neonate was antenatally diagnosed with cleidocranial dysplasia on the basis of prenatal ultrasound findings and molecular testing of the RUNX2 gene. The patient presented with urosepsis at 24 days of life and subsequently developed apneas after endoscopic examination of the vocal cords. Computed tomography and MRI studies of the head revealed crowding of the posterior fossa with tonsilla...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology and Leprology
سال: 2020
ISSN: 0378-6323
DOI: 10.4103/ijdvl.ijdvl_270_20