Phenotype #0000201927

Individual ID	00264073
Associated disease	stature, short
Phenotype details	typical clinical features hereditary pycnodysostosis, abnormal skeletal system, scoliosis, short stature, skeletal dysplasia, increased bone density, open sutures of anterior fontanelle, closed posterior fontanelle, history of developed easy fractures (3x), asymmetric skull, macrocephaly, short fingers with dysplastic nails, midface retrusion; dental abnormalities including severe crowding, poor oral hygiene, periodontal problems, delayed exfoliation primary teeth, eruption permanent teeth, enamel hypoplasia, obliteration pulp chambers, hypercementosis; radiographs exhibit very obtuse mandibular angle, general increase bone density, open fontanels and sutures
Diagnosis/Initial	pycnodysostosis
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PCND
Age/Examination	18y (18 years)
Age/Diagnosis	18y
Age/Onset	03y03m
Phenotype/Onset	-
Protein	-
Owner name	Ehsan Razmara
Database submission license	No license selected
Created by	Ehsan Razmara
Date created	2019-09-10 11:06:07 +02:00 (CEST)
Date last edited	2019-09-10 11:49:19 +02:00 (CEST)