Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes Annales de Genetique 43(2): 81-88, April-June 2000 We report on a new-born girl with multiple congenital anomalies consisting of major [eurekamag.com]

Key words Congenital bowing of long bones Deformity Fractures Epiphyseal dysplasia Metaphyseal dysplasia Osteopenia Multiple congenital anomaly syndromes Osteogenesis imperfecta This is a preview of subscription content, log in to check access. [link.springer.com]

Since December of 1971, two infants have been admitted to the Duke University Medical Center intensive-care nursery following immediate postpartum identification of multiple congenital anomalies consistent with the descriptions of camptomelic dwarfism [acpoc.org]

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome Related symptoms: Autosomal dominant inheritance Intellectual disability Global developmental delay Short stature Generalized [mendelian.co]

ears and large birth weight. [eurekamag.com]

One had dolichocephaly, micrognathia and thoraco-scoliosis; the other had dolicoplagiocephaly, slight hypertelorism, low-set ears, low-set right mandible, bowing of the lower ribs and subcutaneous dimples on the lateral aspect of the tibiae. [acpoc.org]

Is also known as short rib-polydactyly syndrome, type iv;srps4, srps iv, beemer-langer syndrome, short rib syndrome, beemer type;short rib-polydactyly syndrome type 4 Related symptoms: Autosomal recessive inheritance Hypertelorism Cleft palate Milia Low-set [mendelian.co]

Seite 351 - Menkes's kinky hair syndrome: an inherited defect in copper absorption with wide-spread effects. ‎ Bibliografische Informationen [books.google.de]

The radiographic description included "large calvarium with small face, narrow clavicles, small scapulae, very narrow ribs (chiefly posteriorly), many flat and narrow vertebrae with swollen, unossified pedicles, delayed ossification centers of the feet [acpoc.org]

Hepatomegaly Splenomegaly Inguinal hernia Short foot Broad palm Ascites Abnormality of the sense of smell Neonatal short-limb short stature Dandy-Walker malformation Short toe Skin dimples 11 pairs of ribs Sex reversal Short finger Patent foramen ovale Small [mendelian.co]

[…] true incidence Usually evident in first 2 years of life Clinical Features Large head relatively small face, drooping shoulders & narrow chest One or both clavicles may be affected (usually middle or lateral 1/3, rarely the medial 1/3) When bilateral can [flinders.edu.au]

forehead Talipes Hamartoma of tongue Intestinal malrotation Intellectual disability Milia Abnormality of cardiovascular system morphology Scoliosis Lobulated tongue Epicanthus Thoracic dysplasia Bell-shaped thorax Flat acetabular roof Natal tooth Bowing [mendelian.co]