- A
dysmorphic feature is an
abnormal difference in body structure. It can be an
isolated finding in an
otherwise normal individual, or it can be related...
- abnormalities:
epibulbar dermoids, microphthalmia, anophthalmia, eye
asymmetry or
dysmorphy.
Otorhinolaryngological abnormalities: microtia, anotia,
partial to complete...
-
regular metabolic acidosis, hypotonia,
developmental delays and
facial dysmorphy. It's ****ociated with
mutations in a gene in
chromosome 2. Approximately...
- Fine–Lubinsky
syndrome Specialty Medical genetics Symptoms facial dysmorphy,
global developmental and
speech delay, and ocular,
behavioural and hearing...
- difficulties,
nocturnal irritability, and
gastroesophageal reflux.
Facial dysmorphies thought to be
characteristic of the
syndrome are also
present early in...
- multi-systemic
genetic disorder that is
characterized by cranio-facial
dysmorphy,
premature hair
greying and balding, dry and
wrinkled palms, skeletal...
-
mesodermal hamartomas (multiple hemangiomas, and
intestinal polyps).
Dysmorphy as well as dela****
neuropsychomotor development can also be present. Some...
-
primary Hyperparathyroidism,
neonatal severe primary Hyperphalangism dysmorphy bronchomalacia Hyperphenylalaninemia Hyperphenylalaninemia due to pterin-4-alpha-carbin...
- E,
Vermeesch JR, de
Ravel T, de **** P,
Fryns JP (2008). "The
facial dysmorphy in the
newly recognised microdeletion 2p15-p16.1
refined to a 570 kb region...
-
nanisme et
dysmorphies: un
nouveau syndrome? [Familial pelvi-sca****ry
dysplasia with
anomalies of the epiphyses,
dwarfism and
dysmorphy: a new syndrome...
