[…] genetic Phenotypes Abnormality of the foot ; Abnormality of the thorax ; Autosomal dominant inheritance ; Delayed closure of the anterior fontanelle ; Dislocated radial head ; Fibular aplasia ; Global developmental delay ; Hip dislocation ; Mesomelia ; Short [mousephenotype.org]

High iliac wings 0008808 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hypoplasia of proximal radius 0006434 Mesomelia Disproportionately short middle portion of limb 0003027 Metatarsus valgus 0010508 Narrow iliac wings 0002868 Short [rarediseases.info.nih.gov]

short stature hand contractures genital anomalies Mental retardation short stature heart and skeletal anomalies Mental retardation short stature hypertelorism Mental retardation short stature microcephaly eye Mental retardation short stature ocular and [diseaseinfosearch.org]

They are a heterogeneous group of conditions that vary significantly in clinical severity, ranging from conditions that almost always cause death in utero or soon after to birth, to conditions resulting in short stature and chronic health complications [mhmedical.com]

Symptoms - Mesomelia Short forearms Short lower legs Short stature Causes - Mesomelia The follow list shows some of the possible medical causes of Mesomelia that are listed by the Diseases Database: Robinow-Silverman-Smith syndrome Reinhardt-Pfeiffer [checkorphan.org]

Radiographically, affected newborns usually have wormian bones seen on lateral views of the skull, with significant osteopenia seen throughout the skeleton, especially the spine. 61 Characteristically, the fracture rate falls dramatically after puberty [nature.com]

Ein Fall von Osteopathia hyperostotica (sclerotisans) multiplex infantilis. Fortschr Geb Rontgenstr Nuklearmed 1929; 39: 132-6. 6. Kinoshita A, et al. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. [molcom.jp]

Affiliated tissues include bone, and related phenotypes are skeletal dysplasia and hip dislocation [malacards.org]

Classification bone, developmental, genetic Phenotypes Abnormality of the foot ; Abnormality of the thorax ; Autosomal dominant inheritance ; Delayed closure of the anterior fontanelle ; Dislocated radial head ; Fibular aplasia ; Global developmental delay ; Hip [mousephenotype.org]

dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hypoplasia of proximal radius 0006434 Mesomelia Disproportionately short middle portion of limb 0003027 Metatarsus valgus 0010508 Narrow iliac wings 0002868 Short stature Decreased body [rarediseases.info.nih.gov]

[…] body height Small stature [ more ] 0004322 Skeletal dysplasia 0002652 30%-79% of people have these symptoms Elbow dislocation Dislocations of the elbows Elbow dislocations [ more ] 0003042 Intellectual disability Mental deficiency Mental retardation [rarediseases.info.nih.gov]

deformities Foot deformity [ more ] 0001760 Abnormality of the thorax Abnormality of the chest 0000765 Autosomal dominant inheritance 0000006 Delayed closure of the anterior fontanelle Later than typical closing of soft spot of skull 0001476 Dislocated [rarediseases.info.nih.gov]

disorders syndrome X-linked hypophosphatemia X-linked intellectual disability due to GRIA3 mutations X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability with marfanoid habitus X-linked intellectual [se-atlas.de]

We report on a girl with fibular agenesis, severely abnormal, triangular tibiae, urogenital tract malformations, failure to thrive, convulsions and recurrent apnoeas leading to respiratory arrest at the age of 4 months. [doi.org]

We report on a girl with fibular agenesis, severely abnormal, triangular tibiae, urogenital tract malformations, failure to thrive, convulsions and recurrent apnoeas leading to respiratory arrest at the age of 4 months. [pubfacts.com]

Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. J Inherit Metab Dis 2002; 25: 35-40. P.282 掲載の参考文献 P.291 掲載の参考文献 1. 伊藤祐司ほか. 原発性副甲状腺機能亢進症の疫学. [molcom.jp]

Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound [books.google.com]

Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses). [books.google.com]