Craniocarpotarsal dysplasia is characterized by very peculiar facial features: a flat face with a crying-like expression, long philtrum, and a puckered mouth (as if ready to whistle). [pediatricneuro.com]

Understand the need to suspect infant botulism in an infant younger than 6 months of age who has signs and symptoms such as constipation, listlessness, poor feeding, weak cry, a decreased gag reflex, and hypotonia. [pedsinreview.aappublications.org]

In infancy, the son was found to have a left facial palsy manifest as asymmetric crying facies, difficulty closing the eyes, and motility restriction of the left eye in all directions. [flipper.diff.org]

These have to be observed when the infant is at the peak of the activity, such as when crying or when in discomfort. [mrineonatalbrain.com]

Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. [mendelian.co]

deformity, finger contractures Bony fusion This is likely to be confused with arthrogryposis but includes symphalangism (ie, fusion of phalanges), coalition (ie, fusion of the carpals and tarsal bones), and synostosis (ie, fusion of long bones). [emedicine.medscape.com]

deformity Normal Congenital contractural arachnodactyly (Beals syndrome) AD FBN2 * For facial description see text. # AD – Autosomal dominant. θ Autosomal recessive. [iamg.in]

[…] contraction are: flat face; hypognathium; pectus excavatum; pectus carinatum; bowing or external rotation of the femora, coxa vara, or valga; dysplasia or subluxation of the hips; retrocurvation of the knees; talipes valgus or planus; arthrogryposis; and osteoporosis [pediatricneuro.com]

[…] leprechaunism, megalocornea with multiple skeletal anomalies, Möbius syndrome, nemaline myopathy, oculodentodigital syndrome, ophthalmomandibulomelic dysplasia, orocraniodigital syndrome, otopalatodigital syndrome, Pfeiffer syndrome, Prader-Willi habitus /osteoporosis [emedicine.medscape.com]

Palmoplantar hyperhidrosis Subungual hyperkeratosis Abnormal cornea morphology Abnormal oral mucosa morphology Trichorrhexis nodosa Alopecia universalis Hypotrichosis Circumungual hyperkeratosis Amniotic constriction ring Hypergranulosis Generalized osteoporosis [mendelian.co]

[…] tibial campomelia, and oligosyndactyly syndrome Midphalangeal hair Mehes syndrome Charcot-Marie-Tooth disease Salla disease Brachydactyly type C Hypocalcemia, autosomal dominant Ehlers-Danlos syndrome, hypermobility type ALG12-CDG (CDG-Ig) Juvenile osteoporosis [checkrare.com]

Diagnosis and treatment of osteoporosis. Bloomington (MN): Institute for Clinical Systems Improvement (ICSI); July 2013. Available at: . Manolagas S. Pathogenesis of osteoporosis. UpToDate Inc., Waltham, MA. Last reviewed October 2014. [aetna.com]

The changes due to bone remodeling, as a result continuous muscle contraction are: flat face; hypognathium; pectus excavatum; pectus carinatum; bowing or external rotation of the femora, coxa vara, or valga; dysplasia or subluxation of the hips; retrocurvation [pediatricneuro.com]

Radiographic studies showed right coxa vara, left hip luxation, and osteopenia. At age 1 year, he had an expressionless face, sparse hair, high forehead, bitemporal narrowing, a broad but depressed nasal bridge, and strabismus. [flipper.diff.org]

[…] syndrome Corneal dystrophy Thiel Behnke type Ichthyosiform erythroderma, corneal involvement, deafness Cantu syndrome Pseudodiastrophic dysplasia 5q14.3 microdeletion syndrome Weill-Marchesani syndrome Li-Fraumeni syndrome Camptodactyly arthropathy coxa [checkrare.com]

Hyperkyphosis was observed in 2 cases (74 and 73 ); lumbar lordosis exceeded normal values in 5 cases; severe hyperlordosis was seen in 2 patients (103 and 82 ) (Table 1 ). [scoliosisjournal.biomedcentral.com]

[…] associated with malignant hyperthermia Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck that increases with age, webbing of the knees and elbows that develops before adolescence, multiple joint contractures, and lumbar lordosis [emedicine.medscape.com]

The lumbar lordosis increases with age as well; in adolescence, lumbar lordosis and popliteal and cubital webs increase in size. [slideshare.net]

extremities with reduced muscle mass, and fusions of the long tubular bones Type IV (Herva syndrome): Multiple pterygia, degeneration of the anterior horn cells of the spinal cord, and observed particularly in Finland Popliteal pterygium syndrome (OMIM [emedicine.medscape.com]

[…] least two of the following: Acrogeria (aged appearance to extremities, particularly hands); or Arteriovenous carotid cavernous sinus fistula; or Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes); or Chronic joint [aetna.com]

Facial anomalies include hypertelorism, epicanthal folds, flat nasal root, microretrognathism and microstomia, down-slanting palpebral fissures, low-set malformed ears, and cleft palate. [orpha.net]

It is characterized by a masklike face with a small mouth, giving a whistling face appearance; deep-set eyes; small nose with a broad nasal bridge; epicanthal folds; strabismus; high arched palate; small tongue; an H-shaped cutaneous dimpling on the chin [emedicine.medscape.com]

[A] Typical facial characteristics: trismus, up turned nose, small eye opening; [B] arthrogryposis of the fingers. Bent-bone dysplastic changes involve the femur and tibia. Vertebral changes are often present (Figure 166.3). [pediatricneuro.com]

It is characterized by a masklike face with a small mouth, giving a whistling face appearance; deep-set eyes; small nose with a broad nasal bridge; epicanthal folds; strabismus; high arched palate; small tongue; an H-shaped cutaneous dimpling on the chin [emedicine.medscape.com]

nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ [rarediseases.info.nih.gov]

[…] mouth, facultative camptodactyly Type VIII (Dominant pterygium syndrome) - Multiple pterygium, finger contractures Type IX (congenital contractual arachnodactyly, Beals syndrome) - Ear deformity, finger contractures Bony fusion This is likely to be confused [emedicine.medscape.com]

Sometimes there are no symptoms; in other cases, symptoms are sufficiently severe to cause confusion with rheumatoid arthritis. Some cases run in families. [britannica.com]

Some LGMDs, especially the calpainopathies, show also interstitial inflammation, including eosinophils, and may be confused with inflammatory myopathy. [neuropathology-web.org]

The muscle pathology may be confusing as this can show either minimal non-specific changes or features suggestive of myotubular myopathy. A good clinical and antenatal history and a careful examination of the mother provide the diagnostic clue. [mrineonatalbrain.com]

Familial cold autoinflammatory syndrome shares symptoms, and should not be confused, with acquired cold urticaria, a more common condition mediated by different mechanisms that usually develop later in life and are rarely inherited. [aetna.com]

Muscle biopsy shows variation in fiber size, a central nucleus, and replacement of muscle tissue by fibrosis and proliferation of adipose tissue. Merosin deficiency is present in some cases. [pediatricneuro.com]