Asymmetric pelvic extremities with bilateral proximal femoral angular deformity, barlow and ortolani negative bilateral positive piston, bilateral positive yawning sign, positive drainage test for anterior and posterior of both knees, and ankle without [medcraveonline.com]

The developmental milestones were delayed, with the absence of neck holding, failure to thrive, and intellectual impairment. The child had undergone bilateral penetrating keratoplasty for corneal opacities at the age of 1 year 3 months. [jclpca.org]

Patients affected by the disorder suffer from global developmental delay and a failure to thrive. De Barsy syndrome has been reported in fewer than 50 cases worldwide. It has been found to affect males and females equally. [cags.org.ae]

[…] to thrive Frontal bossing; prominent forehead Hyperreflexia; overreaction of central nervous system to stimuli Hypertelorism; increased space between two organs Hypotelorism; decreased space between two organs Inguinal hernia Intellectual disability [dovemed.com]

Other features include joint hyperlaxity, bone fragility, muscle hypotonia, hip dislocation, sunken eyes, microcorneas, and failure to thrive. [accessanesthesiology.mhmedical.com]

In addition, affected infants may fail to grow and gain weight at the expected rate for age and gender (failure to thrive). [rarediseases.org]

However, features such as muscle hypotonia, cataracts, mental retardation, and neurologic deficits are not readily explained by abnormalities of the elastic system. [jamanetwork.com]

Other features include joint hyperlaxity, bone fragility, muscle hypotonia, hip dislocation, sunken eyes, microcorneas, and failure to thrive. [accessanesthesiology.mhmedical.com]

The newborn, weighing 2721 g and measuring 44 cm long, was noted to have a variety of dysmorphic features: short stature with a small chest and pectus excavatum; skeletal dysplasia with short legs; multiple joint dislocations, especially involving the [jamanetwork.com]

[…] hair implantation, asymmetric eyes (hypertelorism), eruptive asymmetry of the upper and lower canines, cylindrical mobile neck, short, chest thorax, with limitation to the amplexation of the Respiratory movements, unstructured kyphosis, normal cervical lordosis [medcraveonline.com]

Dysmorphic facial features also included large, low-set ears, a depressed nasal bridge with a pinched nose, a prominent forehead, thin, translucent and wrinkled skin, micrognathia, and sparse hair. [cags.org.ae]

hair Strabismus or crossed eyes Talipes equinovarus or club foot Thin skin Umbilical hernia Wide cranial sutures Wormian bones; presence of additional bones within the cranium Based on the frequency of symptoms observed, occasional symptoms in 5%-29% [dovemed.com]

hair, small mouth with thin lips, and small upturned nose. [e-ijd.org]

Hair Mental Retardation Seizures Microcephaly with Mental Retardation and Digital Anomalies microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate Microcephaly, [rgd.mcw.edu]

The majority (96%) of the affected children have IUGR and show postnatal growth retardation. [2] Besides cutis laxa, thin translucent skin with reduced subcutaneous fat has been described, and inguinal and umbilical hernia has been noted in 34% cases. [e-ijd.org]

The child had undergone bilateral penetrating keratoplasty for corneal opacities at the age of 1 year 3 months. A diagnosis of incomplete cleft palate with De Barsy syndrome was made. [jclpca.org]

opacity became more apparent, and strabismus was evident. [e-ijd.org]

This is defined as the combination of progeroid aspect, cutis laxa, corneal opacity, intrauterine growth retardation and severe mental retardation (although some will learn to speak, intelligence is less than normal) [1]. [medcraveonline.com]

Ophthalmological anomalies may include cataracts, corneal opacities and congenital glaucoma. Skeletal findings usually include adducted thumbs, flexion deformities and congenital hip dislocation. [cags.org.ae]

fontanelles; large soft spots/gaps between the cranial bones Low-set ears Macrotia; abnormally-large ears Muscular hypotonia; low muscle tone Myopia or short sight Narrow mouth Narrow nasal ridge Pectus excavatum; condition of sunken breastbone Prominent [dovemed.com]

Dysmorphic features usually include large fontanelles, a prominent forehead, large low-set ears, a pinched nose and sparse hair. Skin is usually thin, translucent and wrinkled with prominent superficial blood vessels. [cags.org.ae]

Facial dysmorphism was present including microcephaly, sharpened facial features, large fontanelles, shallow eyeballs and prominent eyes, wrinkling skin in periorbital region, infra-orbital creases, small, short nose, long philtrum and prominent ears. [omicsonline.org]

Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia. [jamanetwork.com]

[…] arcus; eye abnormality Cryptorchidism; absence of testis/testes within the scrotal sac Cutis laxa; condition characterized by loose and inelastic skin Delayed skeletal maturation, or delayed bone age Failure to thrive Frontal bossing; prominent forehead Hyperreflexia [dovemed.com]

Affected infants and children may experience delays in attaining developmental milestones (developmental delays) and have reflex responses that are stronger than normal (hyperreflexia). [rarediseases.org]

Electroencephalography (EEG) at that time showed features of generalized seizure disorder and he was put on the antiepileptic drug. [e-ijd.org]

bone age Failure to thrive Frontal bossing; prominent forehead Hyperreflexia; overreaction of central nervous system to stimuli Hypertelorism; increased space between two organs Hypotelorism; decreased space between two organs Inguinal hernia Intellectual [dovemed.com]