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]

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]

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]

difficulty, and failure to thrive. [mendelian.co]

Feeding difficulties are common in early infancy and may persist through childhood. [now.aapmr.org]

The clinical course is progressive and respiratory and feeding difficulties, already present at birth or in early infancy, become more severe. Fig. 14.12 Pontocerebellar hypoplasia type 1: case 14.8. [mrineonatalbrain.com]

Additional features commonly found in FSS include scoliosis, prominent superciliary ridge, blepharophimosis, potosis, strabismus, dental crowding, hypoplastic alae nasi, a long philtrum, and feeding difficulty at birth [ 2, 5, 7 ]. [journals.plos.org]

Heterogeneity in spinal muscular atrophy with respiratory distress type 1. J Pediatric Neurosci 2012;7:197-9. [Figure 1] [Table 1] [annalsofian.org]

Stuve-Wiedemann syndrome Stuve-Widerman syndrome previously called Schwartz-Jampel syndrome type 2 is characterized by mild facial dysmorphysm, arthrogryposis, bent-bone dysplasia, unexplained episodes of hyperthermia, respiratory distress, and feeding [pediatricneuro.com]

Genetic causes Spinal muscular atrophy (SMA)-like Distal SMA type 1 Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 Scapuloperoneal SMA X-linked SMA with arthrogryposis SMA-like with central [childneurologyfoundation.org]

distress, and dysphagia, early-onset, 614399 MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 DNM2 Myopathy, centronuclear, 160150 MYF6 Myopathy, centronuclear, 3, 614408 CCDC78 Myopathy, centronuclear [gsdseq.ir]

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is characterized by diaphragmatic paralysis in the first few months of life. Most affected infants have intrauterine growth retardation; many are born prematurely. [ncbi.nlm.nih.gov]

[…] chest deformities, facial dysmorphic features, congenital joint contractures, bone fractures, genital abnormalities SMAPME (159950) ASAH1 8p22 AR Spinal muscular atrophy with progressive myoclonic epilepsy Refractory to treatment myoclonic epilepsy, dysphagia [academic.oup.com]

early-onset, 614399 MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 DNM2 Myopathy, centronuclear, 160150 MYF6 Myopathy, centronuclear, 3, 614408 CCDC78 Myopathy, centronuclear, 4, 614807 BIN1 Myopathy [gsdseq.ir]

Posteriorly rotated ears Cerebral cortical atrophy Polyhydramnios Hernia Vomiting Inguinal hernia Arrhythmia Abnormality of cardiovascular system morphology Intellectual disability, mild Short nose Abnormality of the skeletal system Atrial septal defect Dysphagia [mendelian.co]

[…] associated with names of investigators such as Santavuori-Haltia, Jansky-Bielschowsky, Batten, Spielmeyer-Vogt, Kufs Opitz G/BBB syndrome ( 1 Files ) Disease name: Opitz G/BBB syndrome ICD 10: Q87.8 Synonyms : Hypertelorism-hypospadias syndrome, hypospadias-dysphagia [orphananesthesia.eu]

Determine if dysphagia and/or fatigue during feeding are present [ Iannaccone 2007 ]; consider swallowing evaluation, especially if aspiration is suspected [ Wang et al 2007 ]. [ncbi.nlm.nih.gov]

Face – Facial asymmetry, flat nasal bridge, hemangioma, micrognathia, hypertelorism, cleft palate and trismus. [boneandspine.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]

[…] synostosis, familial impaired pronation and supination of forearm, Liebenberg syndrome, nail-patella syndrome, Nievergelt-Pearlman syndrome, Poland anomaly, radioulnar synostosis, symphalangism, symphalangism-brachydactyly, Tel-Hashomer camptodactyly, and trismus [emedicine.medscape.com]

Unusual Hand DA 7B Freeman-Sheldon Syndome MYH3 Sheldon-Hall B TNNT3, TNN12 Sheldon-Hall Look Alike 2C MYH3 Deafness DA q25 Trismus Pseudocamptodactyly 7A MYH8 AD, Multiple Pterygium Contractural Arachnodactyly FBN2 Absent Teeth DA (11) Chitayat, AR, [slideplayer.com]

camptodactyly on dorsiflexion of wrist Normal Trismus-pseudo-camptodactyly syndrome AD MYH8 8 DA type 8 Typical involvement of hands and feet, multiple pterygia, typical facies * Normal – AD – DA type 9 Finger contractures, arachnodactyly, external [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]

[…] 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]

Grubben de Cock Borghgraef syndrome 0 *Developmental Disabilities *Eczema/congenital *Muscle Hypotonia/congenital *Tooth Abnormalities *Limb Deformities, Congenital. [reference.md]

His 34-year-old mother had an expressionless face, strabismus, miotic pupils, bilateral facial palsy, osteopenia, hypoplasia of the iliac bones, coxa valga, small deformities of the left tibia and fibula, and clubfeet. [flipper.diff.org]

Variable eye features include ophthalmoplegia, strabismus, ptosis, pigmentary maculopathy, keratoconus and an abnormal electroretinogram. [iamg.in]

Scoliosis Genital deformities – cryptorchidism, lack of labia, microphallus Small and malformed eyes, corneal opacities, ptosis, strabismus Tracheal and laryngeal clefts and stenosis. [boneandspine.com]

Hypoplasia of penis Underdeveloped penis 0008736 Macrotia Large ears 0000400 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Ptosis Drooping upper eyelid 0000508 Seizures Seizure 0001250 Skin dimples 0010781 Strabismus [rarediseases.info.nih.gov]

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]

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]

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]

Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., [mendelian.co]

Full blood count result was suggestive of sepsis, however, no growth on blood culture, Urea and electrolytes were normal. Cranial and abdominal ultrasounds were normal. [smjonline.org]

Rogers (1968) has suggested that the lop ear resembles a fetal stage of pinna development, suggesting arrest of development at that stage [12]. [sonoworld.com]

As suggested by Bamshad et al. the above mentioned definition/diagnostic criteria (two major diagnostic criteria involving the upper limb and lower limb) of DA should hold true for at least one member of the affected family and for other family members [iamg.in]

Our results suggest the immunoglobulin domain C2 of MYBPC1 may play an important role in binding to S2 fragment of myosin. [journals.plos.org]

[…] than that suggested by analysis of the five families. [nature.com]

Pena Shokeir Phenotype (Fetal akinesia deformation sequence) Revisited. Birth Defects Res A, 2009;85:677-694. Bamshad M, van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009;91:40-46. [rarediseases.org]

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet 82:, 2008. Narkis G, Ofir R, Landau D, et al. [slideplayer.com]

ABNORMAL BIRTH PRESENTATION 249 Breech Presentation Deformation 251 Transverse Lie Deformation 263 Face and Brow Presentation Deformation 266 WHOLEBODY DEFORMATION OR DISRUPTION 271 Small Uterine Cavity Deformation 273 Oligohydramnios Sequence 279 Fetal Akinesia [books.google.com]

The basic cause is fetal akinesia (reduced fetal movements). The underlying cause can be environmental (lack of ability to move) or genetic (single gene conditions). [patient.info]

[…] contractures, upper motor neuron involvement Late onset HSP LAAHD (611890) GLE1 9q34.11 AR Arthrogryposis with anterior horn cell disease Foetal immobility, hydrops, micrognatia, pulmonary hypoplasia, pterygia and multiple joint contractures, prenatal akinesia [academic.oup.com]

The experience acquired and the literature available lead the present authors to assert that early brace treatment for spinal deformity in arthrogryposis multiplex congenita is often neglected, although its importance is well known. [scoliosisjournal.biomedcentral.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]