DYSPLASIA EPIPHYSIALIS PUNCTATA
\dɪsplˈe͡ɪzi͡əɹ ˌɛpɪfˌɪzɪˈɑːliz pʌŋktˈɑːtə], \dɪsplˈeɪziəɹ ˌɛpɪfˌɪzɪˈɑːliz pʌŋktˈɑːtə], \d_ɪ_s_p_l_ˈeɪ_z_iə_ɹ ˌɛ_p_ɪ_f_ˌɪ_z_ɪ__ˈɑː_l_i_z p_ʌ_ŋ_k_t_ˈɑː_t_ə]\
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A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
By DataStellar Co., Ltd
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Nearby Words
- dysphylaxia
- dyspinealism
- dyspionia
- dyspituitarism
- dysplasia
- Dysplasia Epiphysialis Punctata
- dysplasia, progressive diaphyseal
- dysplasias, progressive diaphyseal
- dysplasmatic
- dysplastic
- dysplastic nevi