* [28425] References: Duca D. et al "A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal" Am J Med Genet. 1981;8(2):173 [wellnessadvocate.com]

2010). (615155) MalaCards based summary : Steel Syndrome, also known as dislocated hips and radial heads, carpal coalition, scoliosis, and short stature, is related to dwarfism, proportionate, with hip dislocation and myelomeningocele. [malacards.org]

dislocations, gPAPP type Chondrodysplasia-disorder of sex development syndrome Chondroectodermal dysplasia with night blindness Ciliopathies with major skeletal involvement Cleidocranial dysplasia Cleidocranial dysplasia and isolated cranial ossification [se-atlas.de]

PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 28 11 GRC002 Gracile Bone Dysplasia 29 12 P BNC003 Bone Cancer 58 13 OST159 Osteogenic Sarcoma 66 14 CRT002 Cartilage-Hair Hypoplasia 59 15 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint [malacards.org]

Dislocations, Gpapp Type OMIM:300863 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia OMIM:215250 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome OMIM:118670 Chondronectin OMIM [informatics.jax.org]

Her oldest daughter SI 020444 (IV-4) presented with manifestations of the Ullrich- Turner syndrome (Fig. 2B, F): reduced birth weight, unusual shortness of stature (even for persons affected with the syndrome), hypertelorism, antimongoloid slant of palpebral [docslide.com.br]

The mothers left ear was normal, but on the right (Fig. 6A), she had severe microtia was absence of the external auditory meatus and canal and corresponding hearing impairment. [docslide.com.br]

Impairment, Cleft Lip/Palate, and/or Mental Retardation; COB1 OMIM:120300 Coloboma of Macula OMIM:216800 Coloboma of Macula and Skeletal Anomalies OMIM:120400 Coloboma of Macula with Type B Brachydactyly OMIM:120430 Coloboma of Optic Nerve OMIM:617306 [informatics.jax.org]

The mothers left ear was normal, but on the right (Fig. 6A), she had severe microtia was absence of the external auditory meatus and canal and corresponding hearing impairment. [docslide.com.br]

Impairment, Cleft Lip/Palate, and/or Mental Retardation; COB1 OMIM:120300 Coloboma of Macula OMIM:216800 Coloboma of Macula and Skeletal Anomalies OMIM:120400 Coloboma of Macula with Type B Brachydactyly OMIM:120430 Coloboma of Optic Nerve OMIM:617306 [informatics.jax.org]

neck, shield-chest with widely spaced nipples, cubitus valgus, primary amenorrhea, lack of development of secondary sexual characteristics, Received for publication March 10, 1980; revision received September 22, 1980. [docslide.com.br]

spaced nipples, cubitus valgus, primary amenorrhea, lack of development of secondary sexual characteristics, Received for publication March 10, 1980; revision received September 22, 1980. [docslide.com.br]

[…] reduced birth weight, unusual shortness of stature (even for persons affected with the syndrome), hypertelorism, antimongoloid slant of palpebral fissures, apparently short and wide neck, shield-chest with widely spaced nipples, cubitus valgus, primary amenorrhea [docslide.com.br]

amenorrhea, lack of development of secondary sexual characteristics, Received for publication March 10, 1980; revision received September 22, 1980. [docslide.com.br]