Bowing Congenital Short Bones Get Update Overview Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized by the following: a disproportionately short stature with a short narrow chest, shortening and bending (bowing) of [diseaseinfosearch.org]

Title Other Names: Bowing, congenital, with short bones; Congenital bowing with short bones Categories: Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized by the following: a disproportionately short stature with a [rarediseases.info.nih.gov]

Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). [emedicine.medscape.com]

Weakness 464 Case 73B An African American Man with Hyperthyroidism and Acute Paralysis 470 Case 74 A Boy with Large Muscles Leg Pain and Elevated Serum Creatine Kinase 472 Case 75 A Woman with Proximal Muscle Weakness Calf Hypertrophy Heel Contractures [books.google.com]

hands large hand 0001176 Muscular hypotonia Low or weak muscle tone 0001252 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Bowed humerus Bowed long bone in upper arm 0003865 Cleft palate [rarediseases.info.nih.gov]

Muscle Weakness 533 Case 85 A Sedentary Man with Acute Respiratory Failure and Myoglobinuria 539 Case 86 A Uremic Man with Proximal Muscle Weakness 545 Case 87 A Woman with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An [books.google.com]

Hypertrophy Heel Contractures and Elevated Serum Creatine Kinase 480 Case 76 A Young Man with Distal Leg Wasting and Normal Sensation 484 Case 77 A Woman with Droopy Eyelids and Difficulty Swallowing 493 Case 78 A Man with Facial and Shoulder Muscle [books.google.com]

nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dumbbell-shaped humerus Dumbbell-shaped long bone in upper arm 0005009 Femoral bowing [rarediseases.info.nih.gov]

nasal bridge 21 Thanatophoric Dwarfism - X-ray feature shortening of the long bones with metaphyseal flaring and cupping characteristically curved femurs (“telephone receiver”) Iliac wings are hypoplastic Sacrosciatic notches are narrow Severe flattening [slideplayer.com]

Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia, joint contractures, and claw hands. [emedicine.medscape.com]

Children normally present with a variety of symptoms, including dislocation of the knees at birth, dislocation of the hips and elbows, flattened facial appearance with a prominent forehead and a depressed nasal bridge. [shrinershospitalsforchildren.org]

nasal root [ more ] 0005280 Dumbbell-shaped humerus Dumbbell-shaped long bone in upper arm 0005009 Femoral bowing Bowed thighbone 0002980 Flared metaphysis Flared wide portion of long bone 0003015 High forehead 0000348 Limitation of joint mobility Decreased [rarediseases.info.nih.gov]

[…] and Later Contractures 503 Case 80 A Woman with Longstanding Weakness and Foot Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark [books.google.com]

At that time, an expressive language delay and speech disorder was noted. This was probably due to poor lip and tongue control, and resolved by the age of 3. Fig 1 : Chest radiograph at 21 months. [healio.com]

Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.com]

Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.com]