PedAM
Pediatric Disease Annotations & Medicines
| Disease | dwarfism |
| Phenotype | C0025958|microcephaly |
| Sentences | 6 |
| PubMedID- 21548129 | The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with microcephaly, such as majewski osteodysplastic primordial dwarfism, type ii (mopd2) and seckel syndrome, which result from loss-of-function mutations in genes coding for centrosomal proteins. |
| PubMedID- 19951897 | Importantly, defects in the atr signaling checkpoint pathway are also associated with other disorders such as microcephaly, a well-documented characteristic of primordial dwarfism, thus providing support for cell cycle checkpoint disruption in primordial dwarfism (o'driscoll et al., 2003; alderton et al., 2004). |
| PubMedID- 25535547 | Phenotypic abnormalities which may be observed in variant klinefelter syndrome include: microcephaly with short stature, hypertelorism, flat nasal bridge, fifth finger clinodactyly, bifid uvula, heart defect, radioulnar synostosis and genu valgum[7]. |
| PubMedID- 22738321 | Conclusion: our results show a novel missense mutation in the igf1r gene (c.a1549t, p.y487f) associated with prenatal and postnatal growth failure and microcephaly in the context of familial short stature. |
| PubMedID- 23166506 | We show that the cenpj hypomorphic mouse that we created recapitulates many key features of seckel syndrome, including microcephaly with memory impairment, dwarfism from birth, and skeletal abnormalities. |
| PubMedID- 21739578 | They have a moderate to severe developmental delay (4/4), absent speech (3/4), microcephaly (3/4), a history of seizures (3/4), postnatal short stature (2/4), and a diaphragmatic or hiatal hernia (2/4). |
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