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Cleidocranial Dysplasia
clavicles, multiple dental abnormalities, short stature and osteoporosis.[ncbi.nlm.nih.gov]
Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development[ncbi.nlm.nih.gov]
Cleidocranial Dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by hypoplastic or absent clavicles, increased head circumference, large fontanels, dental[ncbi.nlm.nih.gov]
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Generalized Connective Tissue Syndrome
This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of[…][books.google.com]
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Ellis-Van Creveld Syndrome
Additional findings were ichthyosis and plantar keratoderma in the former and absent clavicles in the latter, which have not been reported previously.[ncbi.nlm.nih.gov]
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Dysostosis
( absent clavicles ): may have two separate hypoplastic segments 5 supernumerary ribs hemivertebrae with spondylosis small and high scapulae Pelvis hypoplasia of iliac bones[radiopaedia.org]
absent/delayed ossification of the pubic bone creating the appearance of a pseudo-widening of the symphysis pubis Limbs short/ absent fibula short/ absent radius coxa vara[radiopaedia.org]
[…] invagination (atlantoaxial impaction) persistent metopic suture supernumerary or abnormal teeth abnormal ear structures with hearing loss 6 Chest hypoplasia/aplasia of the lateral clavicle[radiopaedia.org]
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Micrognathism
Radiographic features severe neurologic impairment cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognathia absent thumbs and distal phalanges[radiopaedia.org]
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Hypertelorism
clavicles, vertebral anomalies, and pectus excavatum (Cohen 1979).[rrnursingschool.biz]
[…] anterior cranium bifidum) and bulging of the forehead, repre- the coronal sutures), and various skeletal and soft tissue abnormalities, including prominent scapulae, small or absent[rrnursingschool.biz]
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Postaxial Polydactyly Type A5
clavicles, increased head circumference, large fontanels, dental anomalies and short stature.[jmg.bmj.com]
Berlin, Germany; eva.klopocki{at}charite.de Abstract Background Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder characterised by hypoplastic or absent[jmg.bmj.com]
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Crane-Heise Syndrome
There were unusual facial features, digital anomalies, cleft palate, a malformed tongue that prevented swallowing, absent clavicles and genital hypoplasia.[ncbi.nlm.nih.gov]
clavicles.[ncbi.nlm.nih.gov]
[…] calvarium, characteristic facial features comprising cleft lip and palate, hypertelorism, anteverted nares, low-set and posteriorly rotated ears, vertebral anomalies and absent[ncbi.nlm.nih.gov]
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Postaxial Polydactyly Type A4
clavicles, increased head circumference, large fontanels, dental anomalies and short stature.[jmg.bmj.com]
Berlin, Germany; eva.klopocki{at}charite.de Abstract Background Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder characterised by hypoplastic or absent[jmg.bmj.com]
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Hypophosphatasia
It is characterised by macrocephaly with persistently open sutures, absent or hypoplastic clavicles, dental anomalies, and delayed ossification of the pubic bones.[ncbi.nlm.nih.gov]