There was diffuse muscle weakness with foot deformity, ataxia and positive Babinski's sign. Because UDS measured by autoradiography showed less than 2%, a diagnosis of De Sanctis-Cacchione syndrome was made. [jstage.jst.go.jp]

weakness Vitamin D-dependent rickets, type I VLCAD deficiency Vohwinkel syndrome v von Hippel-Lindau syndrome von Willebrand disease, type 1 von Willebrand disease, types 2ABM, and 2N von Willibrand disease, type 3 W Waardenburg syndrome, type 4A Waardenburg [lk.genotek.ru]

There was diffuse muscle weakness with foot deformity, ataxia and positive Babinski's sign. Because UDS measured by autoradiography showed less than 2%, a diagnosis of De Sanctis-Cacchione syndrome was made. [jstage.jst.go.jp]

[…] telangiectatica congenita Chondrocalcinosis 2 Plagiocephaly and X-linked mental retardation Paroxysmal nocturnal hemoglobinuria Osteopetrosis autosomal recessive 3 Complement component 2 deficiency Loeys-Dietz syndrome type 4 CHARGE syndrome Hand and foot [checkrare.com]

impairment 0000407 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Telangiectasia 0001009 Showing of 25 Last updated: 5/1/2019 Making a [rarediseases.info.nih.gov]

抄録 A 15-year-old girl is presented who has a clinical feature of de Sanctis-Cacchione syndrome xerodermia pigmentosum complicated with neurological abnormalities, such as microcephaly, mental retardation, difficulty in hearing, impaired speech, gait disturbance [jstage.jst.go.jp]

Other abnormalities may include an unusually small head (microcephaly); hearing impairment (sensorineural deafness); absent (areflexia) or weakened (hyporeflexia) reflexes; and/or increased rigidity in some muscles causing stiffness and limitation of [rarediseases.org]

These individuals have characteristics of both disorders, including an increased predisposition to cutaneous neoplasms and developmental delay, visual and hearing impairment, and central and peripheral nervous system dysfunction. [renaldo.hassanflores.com]

There was no facial chorea; in fact, she had hypomimia. There was bilateral hearing loss. There were intermittent side-to-side and up-and-down head movements which were most likely titubation secondary to cerebellar dysfunction. [ncbi.nlm.nih.gov]

paralysis Agammaglobulinemia, microcephaly, and severe dermatitis Renal hypouricemia Microcephaly sparse hair mental retardation seizures Dentinogenesis imperfecta type 2 Early-onset, autosomal dominant Alzheimer disease Microduplication Xp11.22-p11.23 [checkrare.com]

paralysis DSP dilated cardiomyopathy with woolly hair and keratoderma UBR1 johanson blizzard johanson blizzard syndrome LIPA lysosomal acid lipase deficiency LHCGR leydig cell hypoplasia SC5D lathosterolosis RECQL4 rapadilino rapadilino syndrome INSR [dokumen.tips]

In addition, there was moderate finger-to-nose dysmetria and bilateral upper extremity dysdiadochokinesis as well as involuntary movements likely due to a combination of ataxia and possible proprioceptive sensory loss (for online suppl. video 1, see www.karger.com [ncbi.nlm.nih.gov]

She was very anxious and perseverated on statements such as being afraid of falling out of her wheelchair or requesting to go to the bathroom. [ncbi.nlm.nih.gov]

There was severe postural instability; hence, she was able to stand up only with assistance. Bilateral Achilles tendon shortening was present and contributed to difficulty in standing. [ncbi.nlm.nih.gov]

Neuroacanthocytosis is a concern in the setting of mental retardation, possible peripheral neuropathy, and chorea, but a blood smear was negative for acanthocytes. [ncbi.nlm.nih.gov]