Shprintzen RJ, Goldberg RB (1982) A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. J Craniofac Genet Dev Biol 2: 65–74 PubMed Google Scholar 2. [link.springer.com]

[…] bilateral aplasia of vas deferens * Congenital bronchobiliary fistula * Congenital cardiovascular malformations * Congenital cardiovascular shunt * Congenital central hypoventilation syndrome * Congenital chloride diarrhea * Congenital contractural arachnodactyly [medicalgeek.com]

[…] retardation athetosis microphthalmia Mental retardation blepharophimosis obesity web neck Mental retardation Buenos Aires type Mental retardation cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly [sosu.us]

[…] resistance - muscle cramps - acral enlargement Achalasia - microcephaly Acro-fronto-facio-nasal dysostosis Acute bilateral depigmentation of the iris Alopecia - contractures - dwarfism - intellectual disability ANE syndrome Anonychia - microcephaly Arachnodactyly [fliphtml5.com]

Hypotonia may predispose to respiratory fatigue and failure with increased work of breathing for same reason. Sensitivity to muscle relaxants may be increased. [accessanesthesiology.mhmedical.com]

Read More Savanah chronic-fatigue-syndrome-and-coq10 200181 It has now been shown that the extreme fatigue experienced by CFS/ME sufferers is a direct result of mitochondrial dysfunction (i.e. dysfunction in the energy production mechanism of our cells [inspire.com]

Deletion Syndrome Chromosome 4q- Syndrome chromosome 5q deletion syndrome Chromosome 6 Ring Syndrome Chromosome 7 Ring Syndrome Chromosome Xp11.3 Deletion Syndrome Chromosome Xq Duplication Syndrome chronic atrial and intestinal dysrhythmia chronic fatigue [rgd.mcw.edu]

congenital anomalies-hypotonia-seizures syndrome multiple cutaneous and mucosal venous malformations Multiple Endocrine Neoplasia Multiple Hamartoma Syndrome Multiple Mitochondrial Dysfunctions Syndrome multiple pterygium syndrome multiple synostoses [rgd.mcw.edu]

congenital anomalies mental retardation, growth failure and cleft lip palate Multiple congenital contractures Multiple contracture syndrome Finnish type Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia, type 2 Multiple fibrofolliculoma [sosu.us]

Both patients were developmentally delayed and suffered from gastroesophageal reflux and recurrent respiratory infections. The only cardiac finding was a functional systolic murmur. Possibly difficult face-mask ventilation and direct laryngoscopy. [accessanesthesiology.mhmedical.com]

[…] isolated nonketotic Hyperglycinemia Hypergonadotropic ovarian failure, familial or sporadic Hyperh–Hyperk Hyperhidrosis Hyperhomocysteinemia Hyper-IgD syndrome Hyperimidodipeptiduria Hyperimmunoglobinemia D with recurrent fever Hyperimmunoglobulin E - recurrent [sosu.us]

Additional respiratory compromise should be expected from repeated aspiration pneumonias due to gastroesophageal reflux. Reduced cooperation because of developmental delay is likely. [accessanesthesiology.mhmedical.com]

Mauriac Syndrome May-Thurner Syndrome McCune Albright syndrome McDonough Syndrome McKusick Kaufman Syndrome McPherson Clemens Syndrome McPherson Robertson Cammarano Syndrome Meacham Winn Culler Syndrome Meckel-Like Cerebrorenodigital Syndrome meconium aspiration [rgd.mcw.edu]

2.5 675 Annular pancreas 1.8**97927 Peripheral resistance to thyroid hormones 2.5 377 Gorlin syndrome 1.8100070 Progressive non-fluent aphasia 2.5 53271 Muenke syndrome 1.8**758 Pseudoxanthoma elasticum 2.5 904 Williams syndrome 1.8**70588 Meconium aspiration [fliphtml5.com]

[…] syndrome), 마카리오 메나 증후군 (Maccario mena syndrome), 맥더못-패튼-윌리암스 증후군(Macdermot-Patton-Williams syndrome), 마카도-조셉 병(Machado-Joseph disease), 마시아스 플로레스 가르시아 크루즈 리베라 증후군(Macias flores garcia cruz rivera syndrome), 맥케이 쉑 카르 증후군(Mackay shek carr syndrome), 큰혀증(Macroglossia [yumpu.com]

[…] dominant Macroglossia exomphalos gigantism Macrogyria pseudobulbar palsy Macrophagic myofasciitis Macrosomia developmental delay dysmorphism Macrosomia microphthalmia cleft palate Macrothrombocytopenia progressive deafness Macrothrombocytopenia with [sosu.us]

The only cardiac finding was a functional systolic murmur. Possibly difficult face-mask ventilation and direct laryngoscopy. These patients may be prone to upper airway obstruction. [accessanesthesiology.mhmedical.com]

[…] anomalies - cleft lip Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract Bangstad syndrome Pontocerebellar hypoplasia type 5 Beemer-Ertbruggen syndrome Posterior fusion of lumbosacral vertebrae - Blepharofacioskeletal syndrome blepharoptosis [fliphtml5.com]

Musculoskeletal abnormalities included hooked clavicles, 13 pairs of ribs, large hands and feet with long, slender fingers, widened metaphyses, and square-shaped vertebral bodies, which developed over time as a sign of muscular hypotonia. [accessanesthesiology.mhmedical.com]

Macleod–Fraser syndrome Macrocephaly cutis marmorata telangiectatica Macrocephaly dominant type Macrocephaly mental retardation facial dysmorphism Macrocephaly mesodermal hamartoma spectrum Macrocephaly mesomelic arms talipes Macrocephaly pigmentation large [sosu.us]

behavior 10 cases 2880 Pontocerebellar hypoplasia type 6 10 cases Juberg-Hayward syndrome 166073 Progeria - short stature - pigmented nevi 10 cases2319 Muscular atrophy - ataxia - retinitis pigmentosa - 10 cases 2959 Pseudo-Zellweger syndrome 10 cases2579 [fliphtml5.com]

Craniofacial abnormalities included a long narrow head with communicating hydrocephalus, prominent forehead, large anterior fontanelle, midface hypoplasia, proptosis and hypertelorism, grooved chin and small upturned nose, and mandibular hypoplasia (micrognathia [accessanesthesiology.mhmedical.com]

Iris dysplasia hypertelorism deafness 0 *Abnormalities, Multiple *Hydrocephalus *Facies *Hearing Loss Anterior Chamber/abnormalities. [reference.md]

[…] and tetralogy of Fallot Hypertelorism hypospadias syndrome Hypertension Hypertensive hyperkalemia, familial Hypertensive hypokalemia familial Hypertensive retinopathy Hyperthermia induced defects Hyperthermia Hyperthyroidism Hyperthyroidism due to mutations [sosu.us]

Disease-Like Syndrome HUPRA Syndrome Hutterite Cerebroosteonephrodysplasia Syndrome hydrolethalus syndrome hypereosinophilic syndrome Hyperimmunoglobulin G1(A1) Syndrome hyperinsulinism Hyperkeratosis-Hyperpigmentation Syndrome hypermobility syndrome hypertelorism [rgd.mcw.edu]

[…] bone fragility 20 cases 455 Radio-ulnar synostosis - amegakaryocytic 20 cases160148 Cap polyposis 20 cases 65282 thrombocytopenia 20 cases88642 Channelopathy-associated congenital insensitivity 20 cases to pain 75857 RAPADILINO syndrome 19 cases1519 Hypertelorism [fliphtml5.com]

Craniofacial abnormalities included a long narrow head with communicating hydrocephalus, prominent forehead, large anterior fontanelle, midface hypoplasia, proptosis and hypertelorism, grooved chin and small upturned nose, and mandibular hypoplasia (micrognathia [accessanesthesiology.mhmedical.com]

MalaCards integrated aliases for Kozlowski Brown Hardwick Syndrome: Name: Kozlowski Brown Hardwick Syndrome 53 73 Unusual Facies, Hooked Clavicles, 13 Pairs of Ribs, Widened Metaphyses, Square Shaped Vertebral Bodies and Communicating Hydrocephalus 53 [malacards.org]

Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus. Pediatr Radiol 22:328, 1992. [PubMed: 1408436] [accessanesthesiology.mhmedical.com]

See Also Cerebral Ventriculitis ; Intracranial Hypertension ; Macrocephaly Examples Dandy-Walker Syndrome ; Hydrocephalus, Normal Pressure Other names Post- Traumatic Hydrocephalus; Obstructive Hydrocephalus; Congenital Hydrocephalus; Communicating Hydrocephalus [reference.md]

Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus Abstract Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic [link.springer.com]