- 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...
- multi-systemic
genetic disorder that is
characterized by cranio-facial
dysmorphy,
premature hair
greying and balding, dry and
wrinkled palms, skeletal...
-
regular metabolic acidosis, hypotonia,
developmental delays and
facial dysmorphy. It's ****ociated with
mutations in a gene in
chromosome 2. Approximately...
-
genetic disorder which is
characterized by
developmental delay,
facial dysmorphy, and
skeletal and
ocular abnormalities. This
disorder was
first described...
-
primary Hyperparathyroidism,
neonatal severe primary Hyperphalangism dysmorphy bronchomalacia Hyperphenylalaninemia Hyperphenylalaninemia due to pterin-4-alpha-carbin...
- Fine–Lubinsky
syndrome Specialty Medical genetics Symptoms facial dysmorphy,
global developmental and
speech delay, and ocular,
behavioural and hearing...
- pelvi-sca****ry
dysplasia with
anomalies of the epiphyses,
dwarfism and
dysmorphy: A new syndrome? (Author's transl)".
Archives Françaises de Pédiatrie...
- breastfeeding,
nocturnal irritability, and
gastroesophageal reflux.
Facial dysmorphies thought to be
characteristic of the
syndrome are also
present early in...
-
nanisme et
dysmorphies: un
nouveau syndrome? [Familial pelvi-sca****ry
dysplasia with
anomalies of the epiphyses,
dwarfism and
dysmorphy: a new syndrome...
