| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 18 (39.0%) |
19041204 |
Apnea and macrocephaly-cutis marmorata telangiectatica congenita. Franklin B, Gasco J, Rangel-Castilla L, Nauta HJ. Brain Dev. 2009;31(9):706-9. |
| Macrocephaly | ||
| Apnea Brain Decompression, Surgical Females Head Homo sapiens Hydrocephalus Hypertrophy Infant Infant, Newborn Magnetic Resonance Imaging Preterm Infant Stenosis | ||
| 18 (39.0%) |
18978660 |
Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case. Canham NL, Holder SE. Clin Dysmorphol. 2008;17(4):279-81. |
| Macrocephaly | ||
| Adult Child Child, Preschool Females Homo sapiens Peripheral Vascular Diseases | ||
| 18 (39.0%) |
18342719 |
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features. Katugampola R, Moss C, Mills C. J Am Acad Dermatol. 2008;58(4):697-702. |
| Macrocephaly | ||
| Child, Preschool Head Homo sapiens Male Skin Abnormalities Syndrome Telangiectasis | ||
| 18 (39.0%) |
18000912 |
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr. Am J Med Genet A. 2007;143A(24):2981-3008. |
| Macrocephaly | ||
| Birth Weight Brain Child Child, Preschool Corpus Callosum Craniofacial Abnormalities Females Homo sapiens Infant Magnetic Resonance Imaging Male Syndrome Telangiectasis | ||
| 18 (39.0%) |
17465364 |
Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases. Conway RL, Danielpour M, Graham JM Jr. J Neurosurg. 2007;106(4 Suppl):296-301. |
| Small posterior fossa | ||
| Brain Cerebellar Diseases Homo sapiens Infant Male Telangiectasis | ||
| 18 (39.0%) |
12872811 |
Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation. Stoll C. Genet Couns. 2003;14(2):173-9. |
| Macrocephaly | ||
| Child, Preschool Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 2 Fatal Outcome Homo sapiens Male Telangiectasis Terminology as Topic | ||
| 18 (39.0%) |
12072801 |
Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma. Schwartz IV, Felix TM, Riegel M, Schuler-Faccini L. Clin Dysmorphol. 2002;11(3):199-202. |
| Macrocephaly | ||
| Child, Preschool Eye Neoplasms Homo sapiens Male Retinoblastoma Telangiectasis | ||
| 18 (39.0%) |
11432498 |
Cutis marmorata telangiectatica congenita: an unusual cause of lower extremity hypoplasia. Avci S, Calikoglu E, Sayli U. Turk J Pediatr. 2001;43(2):159-61. |
| Macrocephaly | ||
| Child Females Homo sapiens Leg Skin Diseases, Vascular Telangiectasis | ||
| 18 (39.0%) |
9511980 |
MRI findings in macrocephaly-cutis marmorata telangiectatica congenita. Carcao M, Blaser SI, Grant RM, Weksberg R, Siegel-Bartelt J. Am J Med Genet. 1998;76(2):165-7. |
| Macrocephaly | ||
| Birth Weight Brain Craniofacial Abnormalities Fetal Macrosomia Homo sapiens Infant Magnetic Resonance Imaging Male Syndrome Telangiectasis | ||
| 18 (39.0%) |
3393407 |
[Cutis marmorata telangiectatica congenita with body asymmetry]. Wroblewski I, Joannard A, Francois P, Baudain P, Beani JC, Beaudoing A. Pediatrie. 1988;43(2):117-20. |
| Macrocephaly | ||
| Head Homo sapiens Hypertrophy Infant, Newborn Intracranial Arteriovenous Malformation Leg Length Inequality Male Pigmentation Disorders Telangiectasis |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000951 | Abnormality of the skin | Very frequent (99-80%) |
| HP:0000965 | Cutis marmorata | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001933 | Subcutaneous hemorrhage | Very frequent (99-80%) |
| HP:0002814 | Abnormality of the lower limb | Very frequent (99-80%) |
| HP:0002817 | Abnormality of the upper limb | Very frequent (99-80%) |
| HP:0006385 | Short lower limbs | Very frequent (99-80%) |
| HP:0100026 | Arteriovenous malformation | Very frequent (99-80%) |
| HP:0200041 | Skin erosion | Very frequent (99-80%) |
| HP:0000541 | Retinal detachment | Frequent (79-30%) |
| HP:0000555 | Leukocoria | Frequent (79-30%) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | Frequent (79-30%) |
| HP:0100585 | Telangiectasia of the skin | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000979 | Purpura | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001541 | Ascites | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0004349 | Reduced bone mineral density | Occasional (29-5%) |
| HP:0005306 | Capillary hemangioma | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0007565 | Multiple cafe-au-lait spots | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
| HP:0100545 | Arterial stenosis | Occasional (29-5%) |
| HP:0100555 | Asymmetric growth | Occasional (29-5%) |
| HP:0100627 | Displacement of the urethral meatus | Occasional (29-5%) |
| HP:0100814 | Blue nevus | Occasional (29-5%) |
Total: 52
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000256 | Macrocephaly | 19 |
| HP:0000965 | Cutis marmorata | 11 |
| HP:0001009 | Telangiectasia | 8 |
| HP:0001052 | Nevus flammeus | 3 |
| HP:0001250 | Seizures | 3 |
| HP:0001548 | Overgrowth | 3 |
| HP:0025104 | Capillary malformation | 3 |
| HP:0000047 | Hypospadias | 2 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0000501 | Glaucoma | 2 |
| HP:0000541 | Retinal detachment | 2 |
| HP:0000822 | Hypertension | 2 |
| HP:0001159 | Syndactyly | 2 |
| HP:0001528 | Hemihypertrophy | 2 |
| HP:0001770 | Toe syndactyly | 2 |
| HP:0100556 | Hemiatrophy | 2 |
| HP:0000076 | Vesicoureteral reflux | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000938 | Osteopenia | 1 |
| HP:0001025 | Urticaria | 1 |
| HP:0001048 | Cavernous hemangioma | 1 |
| HP:0001269 | Hemiparesis | 1 |
| HP:0001382 | Joint hypermobility | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001762 | Talipes equinovarus | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002240 | Hepatomegaly | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0003764 | Nevus | 1 |
| HP:0006521 | Pulmonary lymphangiectasia | 1 |
| HP:0007917 | Tractional retinal detachment | 1 |
| HP:0008094 | Widely spaced toes | 1 |
| HP:0008404 | Nail dystrophy | 1 |
| HP:0010783 | Erythema | 1 |
| HP:0011510 | Drusen | 1 |
| HP:0011590 | Double aortic arch | 1 |
| HP:0012151 | Hemothorax | 1 |
| HP:0012733 | Macule | 1 |
| HP:0012855 | Scrotal hyperpigmentation | 1 |
| HP:0025105 | Nevus anemicus | 1 |
| HP:0031273 | Shock | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
| HP:0100555 | Asymmetric growth | 1 |
| HP:0100559 | Lower limb asymmetry | 1 |